64135[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 1319650	NM_022168.4(IFIH1):c.*7del	IFIH1	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 1224812	NM_022168.4(IFIH1):c.*6G>A	IFIH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2093609	NM_022168.4(IFIH1):c.3069T>C (p.Asp1023=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1343866	NM_022168.4(IFIH1):c.3068A>C (p.Asp1023Ala)	IFIH1 (D1023A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440729	NM_022168.4(IFIH1):c.3067G>T (p.Asp1023Tyr)	IFIH1 (D1023Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2020941	NM_022168.4(IFIH1):c.3060A>G (p.Leu1020=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 836873	NM_022168.4(IFIH1):c.3055del (p.Cys1019fs)	IFIH1 (C1019fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2127706	NM_022168.4(IFIH1):c.3050A>G (p.Glu1017Gly)	IFIH1 (E1017G)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2932349	NM_022168.4(IFIH1):c.3044A>G (p.Tyr1015Cys)	IFIH1 (Y1015C)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2122175	NM_022168.4(IFIH1):c.3042C>T (p.Asp1014=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1721003	NM_022168.4(IFIH1):c.3042C>G (p.Asp1014Glu)	IFIH1 (D1014E)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1574605	NM_022168.4(IFIH1):c.3036T>A (p.Asn1012Lys)	IFIH1 (N1012K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1387671	NM_022168.4(IFIH1):c.3035A>G (p.Asn1012Ser)	IFIH1 (N1012S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2922818	NM_022168.4(IFIH1):c.3026C>G (p.Thr1009Arg)	IFIH1 (T1009R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 1461161	NM_022168.4(IFIH1):c.3025A>G (p.Thr1009Ala)	IFIH1 (T1009A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +2 more	GUncertain significance
Select item 915410	NM_022168.4(IFIH1):c.3020C>A (p.Pro1007His)	IFIH1 (P1007H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2922905	NM_022168.4(IFIH1):c.3018A>G (p.Leu1006=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 1941345	NM_022168.4(IFIH1):c.3006G>T (p.Lys1002Asn)	IFIH1 (K1002N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1627367	NM_022168.4(IFIH1):c.3006G>A (p.Lys1002=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2922300	NM_022168.4(IFIH1):c.3005A>C (p.Lys1002Thr)	IFIH1 (K1002T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2507109	NM_022168.4(IFIH1):c.3004A>T (p.Lys1002Ter)	IFIH1 (K1002*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2948165	NM_022168.4(IFIH1):c.3003A>C (p.Lys1001Asn)	IFIH1 (K1001N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2939108	NM_022168.4(IFIH1):c.3001A>G (p.Lys1001Glu)	IFIH1 (K1001E)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2156834	NM_022168.4(IFIH1):c.3000C>T (p.Tyr1000=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 644196	NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His)	IFIH1 (Y1000H)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1405123	NM_022168.4(IFIH1):c.2990del (p.Lys997fs)	IFIH1 (K997fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 1607209	NM_022168.4(IFIH1):c.2988A>G (p.Thr996=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2131728	NM_022168.4(IFIH1):c.2979T>C (p.Asn993=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1500201	NM_022168.4(IFIH1):c.2978A>C (p.Asn993Thr)	IFIH1 (N993T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1044403	NM_022168.4(IFIH1):c.2973C>A (p.Phe991Leu)	IFIH1 (F991L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2557630	NM_022168.4(IFIH1):c.2968G>A (p.Val990Ile)	IFIH1 (V990I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500334	NM_022168.4(IFIH1):c.2968G>T (p.Val990Phe)	IFIH1 (V990F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1556400	NM_022168.4(IFIH1):c.2964A>G (p.Val988=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 705167	NM_022168.4(IFIH1):c.2962G>T (p.Val988Leu)	IFIH1 (V988L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 574103	NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)	IFIH1 (V988I)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2949965	NM_022168.4(IFIH1):c.2960T>C (p.Phe987Ser)	IFIH1 (F987S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2937257	NM_022168.4(IFIH1):c.2954G>C (p.Arg985Thr)	IFIH1 (R985T)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 1925860	NM_022168.4(IFIH1):c.2952A>G (p.Ile984Met)	IFIH1 (I984M)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1989453	NM_022168.4(IFIH1):c.2950A>G (p.Ile984Val)	IFIH1 (I984V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2672248	NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)	IFIH1 (K983E)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, childhood-onset +2 more	GUncertain significance
Select item 474957	NM_022168.4(IFIH1):c.2946C>T (p.Leu982=)	IFIH1	Single nucleotide variant (synonymous variant)	IFIH1-related disorder +4 more	GBenign/Likely benign
Select item 2167580	NM_022168.4(IFIH1):c.2942G>T (p.Cys981Phe)	IFIH1 (C981F)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 541786	NM_022168.4(IFIH1):c.2937G>A (p.Leu979=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1803759	NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)	IFIH1	Duplication (inframe_insertion)	Aicardi-Goutieres syndrome 7	GUncertain significance
Select item 541770	NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)	IFIH1 (L979W)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GPathogenic
Select item 2106759	NM_022168.4(IFIH1):c.2932G>C (p.Asp978His)	IFIH1 (D978H)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2039672	NM_022168.4(IFIH1):c.2922C>G (p.His974Gln)	IFIH1 (H974Q)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 626113	NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr)	IFIH1 (H974Y)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GUncertain significance
Select item 435492	NM_022168.4(IFIH1):c.2919G>C (p.Val973=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +3 more	GConflicting classifications of pathogenicity
Select item 959969	NM_022168.4(IFIH1):c.2917G>A (p.Val973Met)	IFIH1 (V973M)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1370185	NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu)	IFIH1 (M972L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1507834	NM_022168.4(IFIH1):c.2903G>A (p.Trp968Ter)	IFIH1 (W968*)	Single nucleotide variant (nonsense)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2923099	NM_022168.4(IFIH1):c.2899G>C (p.Ala967Pro)	IFIH1 (A967P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 1963246	NM_022168.4(IFIH1):c.2899G>A (p.Ala967Thr)	IFIH1 (A967T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 705601	NM_022168.4(IFIH1):c.2899-4C>T	IFIH1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 7 +1 more	GBenign
Select item 1619271	NM_022168.4(IFIH1):c.2899-5T>C	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2938716	NM_022168.4(IFIH1):c.2899-8T>C	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1638798	NM_022168.4(IFIH1):c.2899-16C>G	IFIH1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2940355	NM_022168.4(IFIH1):c.2899-18C>G	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2190801	NM_022168.4(IFIH1):c.2898+20C>G	IFIH1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2157801	NM_022168.4(IFIH1):c.2898+19G>C	IFIH1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 1647863	NM_022168.4(IFIH1):c.2898+17G>A	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GBenign
Select item 2173485	NM_022168.4(IFIH1):c.2898+15G>A	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1150847	NM_022168.4(IFIH1):c.2898+14T>C	IFIH1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 1369620	NM_022168.4(IFIH1):c.2898+5G>C	IFIH1	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2023669	NM_022168.4(IFIH1):c.2898+4A>G	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2080470	NM_022168.4(IFIH1):c.2898+3G>A	IFIH1	Single nucleotide variant (intron variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2094368	NM_022168.4(IFIH1):c.2898G>C (p.Gln966His)	IFIH1 (Q966H)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1690849	NM_022168.4(IFIH1):c.2896C>T (p.Gln966Ter)	IFIH1 (Q966*)	Single nucleotide variant (nonsense)	See cases	GUncertain significance
Select item 1488354	NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val)	IFIH1 (G965V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 2950165	NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)	IFIH1 (G965C)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 579785	NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)	IFIH1 (G965S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2432802	NM_022168.4(IFIH1):c.2891G>A (p.Cys964Tyr)	IFIH1 (C964Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3108157	NM_022168.4(IFIH1):c.2888A>T (p.Lys963Ile)	IFIH1 (K963I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1698181	NM_022168.4(IFIH1):c.2884T>C (p.Cys962Arg)	IFIH1 (C962R)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GUncertain significance
Select item 2936056	NM_022168.4(IFIH1):c.2880C>T (p.Ile960=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 653274	NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser)	IFIH1 (G958S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +2 more	GUncertain significance
Select item 2950175	NM_022168.4(IFIH1):c.2867T>A (p.Ile956Lys)	IFIH1 (I956K)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2939713	NM_022168.4(IFIH1):c.2867T>C (p.Ile956Thr)	IFIH1 (I956T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 812540	NM_022168.4(IFIH1):c.2866A>G (p.Ile956Val)	IFIH1 (I956V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7	GPathogenic
Select item 705603	NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)	IFIH1 (Q955E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2946322	NM_022168.4(IFIH1):c.2862T>C (p.Tyr954=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1449927	NM_022168.4(IFIH1):c.2862T>G (p.Tyr954Ter)	IFIH1 (Y954*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 1602036	NM_022168.4(IFIH1):c.2861A>G (p.Tyr954Cys)	IFIH1 (Y954C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2084120	NM_022168.4(IFIH1):c.2859C>G (p.Asp953Glu)	IFIH1 (D953E)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 1010975	NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly)	IFIH1 (D953G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 663134	NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)	IFIH1 (D953N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GUncertain significance
Select item 2941423	NM_022168.4(IFIH1):c.2856C>G (p.Ala952=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 2923050	NM_022168.4(IFIH1):c.2856C>T (p.Ala952=)	IFIH1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 7 +1 more	GLikely benign
Select item 2075652	NM_022168.4(IFIH1):c.2850G>A (p.Lys950=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 1392616	NM_022168.4(IFIH1):c.2850G>T (p.Lys950Asn)	IFIH1 (K950N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2180008	NM_022168.4(IFIH1):c.2847G>C (p.Lys949Asn)	IFIH1 (K949N)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 756839	NM_022168.4(IFIH1):c.2839C>T (p.Leu947=)	IFIH1	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 1 +1 more	GLikely benign
Select item 261566	NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr)	IFIH1 (A946T)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +3 more	GBenign
Select item 2941757	NM_022168.4(IFIH1):c.2832C>G (p.Asn944Lys)	IFIH1 (N944K)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 2002743	NM_022168.4(IFIH1):c.2832del (p.Asn944fs)	IFIH1 (N944fs)	Deletion (frameshift variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance

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