ClinVar for Gene (Select 221981) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348694	NM_015204.3(THSD7A):c.4070A>G (p.Gln1357Arg)	THSD7A (Q1357R)	Single nucleotide variant (missense variant)	THSD7A-related disorder	GUncertain significance
Select item 3326008	NM_015204.3(THSD7A):c.4040A>G (p.Gln1347Arg)	THSD7A (Q1347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326007	NM_015204.3(THSD7A):c.133G>C (p.Gly45Arg)	THSD7A (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326006	NM_015204.3(THSD7A):c.318T>A (p.Asn106Lys)	THSD7A (N106K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326005	NM_015204.3(THSD7A):c.2714A>G (p.Asp905Gly)	THSD7A (D905G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326004	NM_015204.3(THSD7A):c.236T>A (p.Ile79Asn)	THSD7A (I79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326003	NM_015204.3(THSD7A):c.1342C>T (p.Arg448Cys)	THSD7A (R448C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326002	NM_015204.3(THSD7A):c.3567G>C (p.Arg1189Ser)	THSD7A (R1189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326001	NM_015204.3(THSD7A):c.2837A>G (p.His946Arg)	THSD7A (H946R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326000	NM_015204.3(THSD7A):c.4814A>C (p.Lys1605Thr)	THSD7A (K1605T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325999	NM_015204.3(THSD7A):c.875A>C (p.Lys292Thr)	THSD7A (K292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325998	NM_015204.3(THSD7A):c.2477C>A (p.Ala826Glu)	THSD7A (A826E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325997	NM_015204.3(THSD7A):c.907A>C (p.Lys303Gln)	THSD7A (K303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325996	NM_015204.3(THSD7A):c.887C>T (p.Ala296Val)	THSD7A (A296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325995	NM_015204.3(THSD7A):c.80C>T (p.Pro27Leu)	THSD7A (P27L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3325994	NM_015204.3(THSD7A):c.4445G>A (p.Ser1482Asn)	THSD7A (S1482N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325993	NM_015204.3(THSD7A):c.439A>G (p.Ile147Val)	THSD7A (I147V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3325992	NM_015204.3(THSD7A):c.4598C>T (p.Thr1533Ile)	THSD7A (T1533I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325990	NM_015204.3(THSD7A):c.304G>A (p.Ala102Thr)	THSD7A (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325989	NM_015204.3(THSD7A):c.2435G>A (p.Arg812Gln)	THSD7A (R812Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177217	NM_015204.3(THSD7A):c.812T>G (p.Val271Gly)	THSD7A (V271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177216	NM_015204.3(THSD7A):c.59G>T (p.Arg20Leu)	THSD7A (R20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177215	NM_015204.3(THSD7A):c.4945T>G (p.Leu1649Val)	THSD7A (L1649V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177214	NM_015204.3(THSD7A):c.4916G>A (p.Arg1639Lys)	THSD7A (R1639K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177213	NM_015204.3(THSD7A):c.4849G>T (p.Val1617Leu)	THSD7A (V1617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177212	NM_015204.3(THSD7A):c.4733A>C (p.His1578Pro)	THSD7A (H1578P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177211	NM_015204.3(THSD7A):c.463G>C (p.Val155Leu)	THSD7A (V155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177210	NM_015204.3(THSD7A):c.4588G>A (p.Glu1530Lys)	THSD7A (E1530K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177209	NM_015204.3(THSD7A):c.413A>G (p.Lys138Arg)	THSD7A (K138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177208	NM_015204.3(THSD7A):c.401C>T (p.Pro134Leu)	THSD7A (P134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177207	NM_015204.3(THSD7A):c.3943A>G (p.Thr1315Ala)	THSD7A (T1315A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177206	NM_015204.3(THSD7A):c.3661C>A (p.His1221Asn)	THSD7A (H1221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177205	NM_015204.3(THSD7A):c.3560G>A (p.Arg1187Gln)	THSD7A (R1187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177204	NM_015204.3(THSD7A):c.3505T>C (p.Ser1169Pro)	THSD7A (S1169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177203	NM_015204.3(THSD7A):c.3443C>A (p.Pro1148Gln)	THSD7A (P1148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177202	NM_015204.3(THSD7A):c.3379G>T (p.Val1127Leu)	THSD7A (V1127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177200	NM_015204.3(THSD7A):c.3279C>G (p.Asp1093Glu)	THSD7A (D1093E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177199	NM_015204.3(THSD7A):c.3173G>A (p.Arg1058His)	THSD7A (R1058H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177198	NM_015204.3(THSD7A):c.3034C>G (p.Leu1012Val)	THSD7A (L1012V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177197	NM_015204.3(THSD7A):c.3019G>A (p.Asp1007Asn)	THSD7A (D1007N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177196	NM_015204.3(THSD7A):c.286C>T (p.His96Tyr)	THSD7A (H96Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177195	NM_015204.3(THSD7A):c.2756A>G (p.Asn919Ser)	THSD7A (N919S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177194	NM_015204.3(THSD7A):c.2696G>T (p.Cys899Phe)	THSD7A (C899F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177193	NM_015204.3(THSD7A):c.2678C>T (p.Pro893Leu)	THSD7A (P893L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177192	NM_015204.3(THSD7A):c.2570C>T (p.Ala857Val)	THSD7A (A857V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177191	NM_015204.3(THSD7A):c.2476G>T (p.Ala826Ser)	THSD7A (A826S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177190	NM_015204.3(THSD7A):c.2456A>G (p.Tyr819Cys)	THSD7A (Y819C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177189	NM_015204.3(THSD7A):c.2362A>G (p.Lys788Glu)	THSD7A (K788E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177188	NM_015204.3(THSD7A):c.2212A>G (p.Ile738Val)	THSD7A (I738V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177187	NM_015204.3(THSD7A):c.1984G>A (p.Ala662Thr)	THSD7A (A662T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177186	NM_015204.3(THSD7A):c.1924A>C (p.Thr642Pro)	THSD7A (T642P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177185	NM_015204.3(THSD7A):c.1732G>A (p.Ala578Thr)	THSD7A (A578T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177184	NM_015204.3(THSD7A):c.1694C>T (p.Ala565Val)	THSD7A (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177183	NM_015204.3(THSD7A):c.1669G>A (p.Gly557Arg)	THSD7A (G557R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177182	NM_015204.3(THSD7A):c.1636A>G (p.Thr546Ala)	THSD7A (T546A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057173	NM_015204.3(THSD7A):c.80CGCTGC[2] (p.27PL[2])	THSD7A	Microsatellite	THSD7A-related disorder	GLikely benign
Select item 3048841	NM_015204.3(THSD7A):c.3244-10A>C	THSD7A	Single nucleotide variant (intron variant)	THSD7A-related disorder	GLikely benign
Select item 3048323	NM_015204.3(THSD7A):c.3941T>C (p.Val1314Ala)	THSD7A (V1314A)	Single nucleotide variant (missense variant)	THSD7A-related disorder	GLikely benign
Select item 3038867	NM_015204.3(THSD7A):c.1925C>T (p.Thr642Met)	THSD7A (T642M)	Single nucleotide variant (missense variant)	THSD7A-related disorder	GLikely benign
Select item 2690234	NM_015204.3(THSD7A):c.77T>C (p.Leu26Pro)	THSD7A (L26P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684481	GRCh37/hg19 7p21.3(chr7:11017837-11580072)x3	PHF14, THSD7A	Copy number gain	not provided	GUncertain significance
Select item 2657324	NM_015204.3(THSD7A):c.2487G>A (p.Ala829=)	THSD7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631689	NM_015204.3(THSD7A):c.526T>C (p.Tyr176His)	THSD7A (Y176H)	Single nucleotide variant (missense variant)	THSD7A-related disorder	GUncertain significance
Select item 2629273	NM_015204.3(THSD7A):c.4775_4779dup (p.Phe1594fs)	THSD7A (F1594fs)	Duplication (frameshift variant)	THSD7A-related disorder	GUncertain significance
Select item 2622436	NM_015204.3(THSD7A):c.4445G>C (p.Ser1482Thr)	THSD7A (S1482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619615	NM_015204.3(THSD7A):c.1658C>G (p.Ser553Cys)	THSD7A (S553C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615282	NM_015204.3(THSD7A):c.2402G>A (p.Arg801Gln)	THSD7A (R801Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612582	NM_015204.3(THSD7A):c.1151G>T (p.Gly384Val)	THSD7A (G384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611342	NM_015204.3(THSD7A):c.4196A>T (p.Lys1399Ile)	THSD7A (K1399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593969	NM_015204.3(THSD7A):c.3910C>T (p.Leu1304Phe)	THSD7A (L1304F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592727	NM_015204.3(THSD7A):c.2942T>C (p.Val981Ala)	THSD7A (V981A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2592494	NM_015204.3(THSD7A):c.539A>G (p.Lys180Arg)	THSD7A (K180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590776	NM_015204.3(THSD7A):c.1826A>G (p.Glu609Gly)	THSD7A (E609G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579040	GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)x3	ARL4A, DGKB +7 more	Copy number gain	not provided	GUncertain significance
Select item 2568765	NM_015204.3(THSD7A):c.2741A>G (p.Lys914Arg)	THSD7A (K914R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565468	NM_015204.3(THSD7A):c.3032G>A (p.Arg1011Lys)	THSD7A (R1011K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559393	NM_015204.3(THSD7A):c.2108C>A (p.Pro703His)	THSD7A (P703H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557061	NM_015204.3(THSD7A):c.2480C>A (p.Pro827His)	THSD7A (P827H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547278	NM_015204.3(THSD7A):c.775C>T (p.Pro259Ser)	THSD7A (P259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543980	NM_015204.3(THSD7A):c.1870C>T (p.Pro624Ser)	THSD7A (P624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533684	NM_015204.3(THSD7A):c.3689G>A (p.Ser1230Asn)	THSD7A (S1230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529215	NM_015204.3(THSD7A):c.1838G>C (p.Arg613Thr)	THSD7A (R613T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525965	NM_015204.3(THSD7A):c.389A>G (p.Asn130Ser)	THSD7A (N130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525295	NM_015204.3(THSD7A):c.172C>A (p.Leu58Ile)	THSD7A (L58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519129	NM_015204.3(THSD7A):c.3528A>C (p.Gln1176His)	THSD7A (Q1176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515528	NM_015204.3(THSD7A):c.151G>A (p.Gly51Ser)	THSD7A (G51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509738	NM_015204.3(THSD7A):c.745G>A (p.Glu249Lys)	THSD7A (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509537	NM_015204.3(THSD7A):c.38G>C (p.Arg13Pro)	THSD7A (R13P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509444	NM_015204.3(THSD7A):c.1189A>T (p.Ile397Phe)	THSD7A (I397F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495677	NM_015204.3(THSD7A):c.3890A>C (p.Glu1297Ala)	THSD7A (E1297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494624	NM_015204.3(THSD7A):c.574C>G (p.Gln192Glu)	THSD7A (Q192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492977	NM_015204.3(THSD7A):c.2081G>A (p.Cys694Tyr)	THSD7A (C694Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491164	NM_015204.3(THSD7A):c.1531A>G (p.Thr511Ala)	THSD7A (T511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484353	NM_015204.3(THSD7A):c.589G>C (p.Val197Leu)	THSD7A (V197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476651	NM_015204.3(THSD7A):c.3775G>C (p.Val1259Leu)	THSD7A (V1259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461630	NM_015204.3(THSD7A):c.2265C>A (p.Ser755Arg)	THSD7A (S755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409255	NM_015204.3(THSD7A):c.1004G>A (p.Gly335Glu)	THSD7A (G335E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400377	NM_015204.3(THSD7A):c.4362G>C (p.Glu1454Asp)	THSD7A (E1454D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386585	NM_015204.3(THSD7A):c.3467G>A (p.Arg1156Lys)	THSD7A (R1156K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383664	NM_015204.3(THSD7A):c.1753G>A (p.Glu585Lys)	THSD7A (E585K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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