ClinVar for Gene (Select 22983) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123770	NM_014975.3(MAST1):c.844A>G (p.Ile282Val)	MAST1 (I282V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123769	NM_014975.3(MAST1):c.4538C>G (p.Ala1513Gly)	MAST1 (A1513G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123768	NM_014975.3(MAST1):c.4330G>C (p.Gly1444Arg)	MAST1 (G1444R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123767	NM_014975.3(MAST1):c.3602A>G (p.Asn1201Ser)	MAST1 (N1201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123766	NM_014975.3(MAST1):c.2886T>G (p.Ser962Arg)	MAST1 (S962R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123765	NM_014975.3(MAST1):c.2864G>A (p.Arg955Gln)	MAST1 (R955Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3123764	NM_014975.3(MAST1):c.2801C>T (p.Ala934Val)	MAST1 (A934V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123763	NM_014975.3(MAST1):c.2527C>G (p.Gln843Glu)	MAST1 (Q843E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123761	NM_014975.3(MAST1):c.2095G>A (p.Val699Met)	MAST1 (V699M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123760	NM_014975.3(MAST1):c.1103C>G (p.Pro368Arg)	MAST1 (P368R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069090	NM_014975.3(MAST1):c.2509G>A (p.Ala837Thr)	LOC112543452, MAST1 (A837T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067733	NM_014975.3(MAST1):c.4695C>T (p.Pro1565=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 3061096	NM_014975.3(MAST1):c.1206G>T (p.Met402Ile)	MAST1 (M402I)	Single nucleotide variant (missense variant)	MAST1-related condition	GUncertain significance
Select item 3054819	NM_014975.3(MAST1):c.4176G>A (p.Gln1392=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related condition	GLikely benign
Select item 3054418	NM_014975.3(MAST1):c.1398T>C (p.Ile466=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related condition	GLikely benign
Select item 3049564	NM_014975.3(MAST1):c.1107G>A (p.Pro369=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related condition	GLikely benign
Select item 3048050	NM_014975.3(MAST1):c.-7C>A	LOC130063671, MAST1	Single nucleotide variant (5 prime UTR variant)	MAST1-related condition	GBenign
Select item 3043896	NM_014975.3(MAST1):c.3263+8C>T	MAST1	Single nucleotide variant (intron variant)	MAST1-related condition	GLikely benign
Select item 3036574	NM_014975.3(MAST1):c.2544C>T (p.Ser848=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related condition	GLikely benign
Select item 3027250	NM_014975.3(MAST1):c.2641G>A (p.Asp881Asn)	MAST1 (D881N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026779	NM_014975.3(MAST1):c.3491C>G (p.Pro1164Arg)	MAST1 (P1164R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026047	NM_014975.3(MAST1):c.3442G>A (p.Ala1148Thr)	MAST1 (A1148T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025381	NM_014975.3(MAST1):c.877-7G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020840	NM_014975.3(MAST1):c.2427C>T (p.Ala809=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017180	NM_014975.3(MAST1):c.4155C>T (p.Asp1385=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013686	NM_014975.3(MAST1):c.4476C>T (p.Ser1492=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013530	NM_014975.3(MAST1):c.4411C>T (p.Pro1471Ser)	MAST1 (P1471S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2973514	NM_014975.3(MAST1):c.15C>G (p.Leu5=)	LOC130063671, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912368	NM_014975.3(MAST1):c.2160G>A (p.Gln720=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911729	NM_014975.3(MAST1):c.2319C>T (p.Ile773=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2908770	NM_014975.3(MAST1):c.993C>T (p.Thr331=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907922	NM_014975.3(MAST1):c.4265G>A (p.Arg1422Gln)	MAST1 (R1422Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905592	NM_014975.3(MAST1):c.84-8C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900575	NM_014975.3(MAST1):c.2307C>A (p.Gly769=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896313	NM_014975.3(MAST1):c.2318+9G>C	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886682	NM_014975.3(MAST1):c.1485C>T (p.His495=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881807	NM_014975.3(MAST1):c.2863C>T (p.Arg955Trp)	MAST1 (R955W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879701	NM_014975.3(MAST1):c.877-12G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879184	NM_014975.3(MAST1):c.1647G>A (p.Gly549=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878959	NM_014975.3(MAST1):c.84-19del	MAST1	Deletion (intron variant)	not provided	GLikely benign
Select item 2878816	NM_014975.3(MAST1):c.2105G>A (p.Arg702His)	MAST1 (R702H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878737	NM_014975.3(MAST1):c.3003+12T>C	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878490	NM_014975.3(MAST1):c.1404G>A (p.Ala468=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878450	NM_014975.3(MAST1):c.1449A>T (p.Leu483=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877625	NM_014975.3(MAST1):c.1006C>T (p.Pro336Ser)	MAST1 (P336S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877415	NM_014975.3(MAST1):c.489-17G>A	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876431	NM_014975.3(MAST1):c.1506-14A>G	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873759	NM_014975.3(MAST1):c.435C>T (p.Asp145=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873432	NM_014975.3(MAST1):c.888C>T (p.Pro296=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872810	NM_014975.3(MAST1):c.1077+6G>T	MAST1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2872134	NM_014975.3(MAST1):c.3820T>C (p.Leu1274=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871411	NM_014975.3(MAST1):c.3264-17C>G	MAST1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870972	NM_014975.3(MAST1):c.2457G>A (p.Leu819=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870674	NM_014975.3(MAST1):c.2567-15T>C	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870307	NM_014975.3(MAST1):c.4504A>G (p.Lys1502Glu)	MAST1 (K1502E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870087	NM_014975.3(MAST1):c.4679A>T (p.Lys1560Ile)	MAST1 (K1560I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869750	NM_014975.3(MAST1):c.759G>A (p.Glu253=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868492	NM_014975.3(MAST1):c.4569A>C (p.Ala1523=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867874	NM_014975.3(MAST1):c.2092C>A (p.Pro698Thr)	MAST1 (P698T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866452	NM_014975.3(MAST1):c.4065G>T (p.Val1355=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863258	NM_014975.3(MAST1):c.2773+7C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859977	NM_014975.3(MAST1):c.2646G>T (p.Leu882Phe)	MAST1 (L882F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858898	NM_014975.3(MAST1):c.2550C>T (p.Ala850=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2858309	NM_014975.3(MAST1):c.2385C>T (p.Arg795=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856378	NM_014975.3(MAST1):c.1065C>A (p.Asp355Glu)	MAST1 (D355E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849871	NM_014975.3(MAST1):c.644G>A (p.Gly215Asp)	LOC117125587, MAST1 (G215D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844794	NM_014975.3(MAST1):c.4506G>T (p.Lys1502Asn)	MAST1 (K1502N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844572	NM_014975.3(MAST1):c.3127-15G>C	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844061	NM_014975.3(MAST1):c.4706G>T (p.Gly1569Val)	MAST1 (G1569V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834867	NM_014975.3(MAST1):c.2757T>C (p.Ser919=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833716	NM_014975.3(MAST1):c.4094dup (p.Ala1366fs)	MAST1 (A1366fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 2827940	NM_014975.3(MAST1):c.2210A>C (p.Lys737Thr)	LOC112543452, MAST1 (K737T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819372	NM_014975.3(MAST1):c.178_192del (p.Ser60_Ser64del)	MAST1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2819334	NM_014975.3(MAST1):c.2730C>A (p.Ile910=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818874	NM_014975.3(MAST1):c.1374C>T (p.Asp458=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808387	NM_014975.3(MAST1):c.18G>A (p.Trp6Ter)	LOC130063671, MAST1 (W6*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2808337	NM_014975.3(MAST1):c.11C>T (p.Ser4Phe)	LOC130063671, MAST1 (S4F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806219	NM_014975.3(MAST1):c.83+10dup	MAST1	Duplication (intron variant)	not provided	GBenign
Select item 2803715	NM_014975.3(MAST1):c.3452-17C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802915	NM_014975.3(MAST1):c.2139+12C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800423	NM_014975.3(MAST1):c.4276T>C (p.Ser1426Pro)	MAST1 (S1426P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2798879	NM_014975.3(MAST1):c.877-13T>C	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796446	NM_014975.3(MAST1):c.3127-16dup	MAST1	Duplication (intron variant)	not provided	GLikely benign
Select item 2793912	NM_014975.3(MAST1):c.1506-17C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793391	NM_014975.3(MAST1):c.954G>C (p.Thr318=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789856	NM_014975.3(MAST1):c.4637G>A (p.Arg1546Gln)	MAST1 (R1546Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2789074	NM_014975.3(MAST1):c.2306G>A (p.Gly769Asp)	LOC112543452, MAST1 (G769D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2787394	NM_014975.3(MAST1):c.1581C>T (p.Thr527=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787321	NM_014975.3(MAST1):c.3271C>T (p.Arg1091Cys)	MAST1 (R1091C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2784667	NM_014975.3(MAST1):c.3708G>C (p.Pro1236=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782287	NM_014975.3(MAST1):c.488+20C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779684	NM_014975.3(MAST1):c.3264-13C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777734	NM_014975.3(MAST1):c.1804+14C>G	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777535	NM_014975.3(MAST1):c.3752A>G (p.Lys1251Arg)	MAST1 (K1251R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777103	NM_014975.3(MAST1):c.2988C>T (p.Val996=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776437	NM_014975.3(MAST1):c.321C>T (p.Thr107=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2773016	NM_014975.3(MAST1):c.565-16_565-6del	LOC117125587, MAST1	Deletion (intron variant)	not provided	GLikely benign
Select item 2768734	NM_014975.3(MAST1):c.1094C>G (p.Ala365Gly)	MAST1 (A365G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766096	NM_014975.3(MAST1):c.4700C>T (p.Pro1567Leu)	MAST1 (P1567L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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