ClinVar for Gene (Select 4726) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3046895	NM_004553.6(NDUFS6):c.-1A>G	MRPL36, NDUFS6	Single nucleotide variant (5 prime UTR variant)	NDUFS6-related condition	GLikely benign
Select item 3016211	NM_004553.6(NDUFS6):c.309+8G>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006009	NM_004553.6(NDUFS6):c.132+10G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999142	NM_004553.6(NDUFS6):c.186+20A>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995456	NM_004553.6(NDUFS6):c.71del (p.Gly24fs)	NDUFS6 (G24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2973646	NM_004553.6(NDUFS6):c.67dup (p.Leu23fs)	NDUFS6 (L23fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2969027	NM_004553.6(NDUFS6):c.187-14_187-11del	NDUFS6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2956181	NM_004553.6(NDUFS6):c.132+15G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911746	NM_004553.6(NDUFS6):c.133-5dup	NDUFS6	Duplication (intron variant)	not provided	GBenign
Select item 2904247	NM_004553.6(NDUFS6):c.310-17C>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898689	NM_004553.6(NDUFS6):c.133-18C>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887603	NM_004553.6(NDUFS6):c.105C>T (p.Thr35=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885599	NM_004553.6(NDUFS6):c.310-14T>C	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885210	NM_004553.6(NDUFS6):c.133-20G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883763	NM_004553.6(NDUFS6):c.187-15T>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881318	NM_004553.6(NDUFS6):c.310-12G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878371	NM_004553.6(NDUFS6):c.321A>G (p.Thr107=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877558	NM_004553.6(NDUFS6):c.132+10G>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855378	NM_004553.6(NDUFS6):c.309+8G>C	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846883	NM_004553.6(NDUFS6):c.53_56del (p.Ala18fs)	NDUFS6 (A18fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2845262	NM_004553.6(NDUFS6):c.228C>A (p.Pro76=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843781	NM_004553.6(NDUFS6):c.274_275del (p.Gly92fs)	NDUFS6 (G92fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2840617	NM_004553.6(NDUFS6):c.133-13del	NDUFS6	Deletion (intron variant)	not provided	GBenign
Select item 2812650	NM_004553.6(NDUFS6):c.309+1G>A	NDUFS6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2796111	NM_004553.6(NDUFS6):c.318_319del (p.Glu106fs)	NDUFS6 (E106fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2793891	NM_004553.6(NDUFS6):c.25C>A (p.Arg9=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792429	NM_004553.6(NDUFS6):c.309+17C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790577	NM_004553.6(NDUFS6):c.9G>C (p.Ala3=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790127	NM_004553.6(NDUFS6):c.309+13C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786280	NM_004553.6(NDUFS6):c.84C>T (p.Phe28=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745809	NM_004553.6(NDUFS6):c.186+8A>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738822	NM_004553.6(NDUFS6):c.51G>T (p.Ala17=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700782	NM_004553.6(NDUFS6):c.187-2A>G	NDUFS6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2696312	NM_004553.6(NDUFS6):c.147A>G (p.Lys49=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685146	GRCh37/hg19 5p15.33(chr5:1797005-1908980)x1	IRX4, MRPL36 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2677006	NM_004553.6(NDUFS6):c.186+1G>A	NDUFS6	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 2677005	NM_004553.6(NDUFS6):c.302_303del (p.Ile101fs)	NDUFS6 (I101fs)	Microsatellite (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 2677004	NM_004553.6(NDUFS6):c.309+1G>T	NDUFS6	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2677003	NM_004553.6(NDUFS6):c.182_185del (p.Lys61fs)	NDUFS6 (K61fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 2677002	NM_004553.6(NDUFS6):c.242del (p.Glu81fs)	NDUFS6 (E81fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2677001	NM_004553.6(NDUFS6):c.314_315del (p.Lys105fs)	NDUFS6 (K105fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 2677000	NM_004553.6(NDUFS6):c.187-1G>C	NDUFS6	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +1 more	GLikely pathogenic
Select item 2655278	NM_004553.6(NDUFS6):c.94G>A (p.Val32Ile)	NDUFS6 (V32I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2506778	NM_004553.6(NDUFS6):c.218C>A (p.Ala73Glu)	NDUFS6 (A73E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502567	NM_004553.6(NDUFS6):c.92G>A (p.Arg31Gln)	NDUFS6 (R31Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479483	NM_004553.6(NDUFS6):c.119C>T (p.Thr40Met)	NDUFS6 (T40M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432093	NM_004553.6(NDUFS6):c.223C>T (p.Gln75Ter)	NDUFS6 (Q75*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 9	GLikely pathogenic
Select item 2427644	NC_000005.9:g.(?_482643)_(1895829_?)del	BRD9, CEP72 +16 more	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 2425153	NC_000005.9:g.(?_1801522)_(1816040_?)del	NDUFS6	Deletion	not provided	GPathogenic
Select item 2425152	NC_000005.9:g.(?_1801532)_(1816030_?)dup	NDUFS6	Duplication	not provided	GUncertain significance
Select item 2425151	NC_000005.9:g.(?_1814443)_(1816040_?)del	NDUFS6	Deletion	not provided	GPathogenic
Select item 2425150	NC_000005.9:g.(?_1801522)_(1802498_?)del	NDUFS6	Deletion	not provided	GPathogenic
Select item 2323890	NM_004553.6(NDUFS6):c.92G>C (p.Arg31Pro)	NDUFS6 (R31P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307780	NM_004553.6(NDUFS6):c.271G>A (p.Gly91Arg)	NDUFS6 (G91R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230566	NM_004553.6(NDUFS6):c.187-3C>T	NDUFS6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2212407	NM_004553.6(NDUFS6):c.109G>T (p.Glu37Ter)	NDUFS6 (E37*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2202065	NM_004553.6(NDUFS6):c.53C>T (p.Ala18Val)	NDUFS6 (A18V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2189334	NM_004553.6(NDUFS6):c.61C>T (p.Leu21=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183970	NM_004553.6(NDUFS6):c.332C>T (p.Thr111Ile)	NDUFS6 (T111I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175361	NM_004553.6(NDUFS6):c.309+2T>C	NDUFS6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2158227	NM_004553.6(NDUFS6):c.187-19G>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2153173	NM_004553.6(NDUFS6):c.15G>A (p.Met5Ile)	MRPL36, NDUFS6 (M5I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141982	NM_004553.6(NDUFS6):c.309+4C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2141811	NM_004553.6(NDUFS6):c.13A>G (p.Met5Val)	MRPL36, NDUFS6 (M5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141323	NM_004553.6(NDUFS6):c.320_323del (p.Thr107fs)	NDUFS6 (T107fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2140432	NM_004553.6(NDUFS6):c.26G>C (p.Arg9Pro)	NDUFS6 (R9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138880	NM_004553.6(NDUFS6):c.17C>T (p.Thr6Ile)	MRPL36, NDUFS6 (T6I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2109975	NM_004553.6(NDUFS6):c.129C>G (p.Gly43=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105306	NM_004553.6(NDUFS6):c.285C>A (p.Gly95=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085970	NM_004553.6(NDUFS6):c.128G>T (p.Gly43Val)	NDUFS6 (G43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2070875	NM_004553.6(NDUFS6):c.55C>G (p.Arg19Gly)	NDUFS6 (R19G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057283	NM_004553.6(NDUFS6):c.63G>A (p.Leu21=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010865	NM_004553.6(NDUFS6):c.132+1G>C	NDUFS6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2003465	NM_004553.6(NDUFS6):c.42T>C (p.Cys14=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997880	NM_004553.6(NDUFS6):c.30G>T (p.Leu10=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980507	NM_004553.6(NDUFS6):c.133-8T>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977135	NM_004553.6(NDUFS6):c.55C>A (p.Arg19=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962866	NM_004553.6(NDUFS6):c.54G>A (p.Ala18=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952689	NM_004553.6(NDUFS6):c.330C>G (p.Gly110=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946907	NM_004553.6(NDUFS6):c.50C>G (p.Ala17Gly)	NDUFS6 (A17G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943584	NM_004553.6(NDUFS6):c.72C>T (p.Gly24=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929644	NM_004553.6(NDUFS6):c.233G>A (p.Ser78Asn)	NDUFS6 (S78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929188	NM_004553.6(NDUFS6):c.187-6T>C	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913334	NM_004553.6(NDUFS6):c.310-10A>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1906235	NM_004553.6(NDUFS6):c.309+1G>C	NDUFS6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic

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