THSD7A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 59566	GRCh38/hg38 7p21.3(chr7:10106458-11714808)x4	LOC100131472, LOC110120772 +15 more	Copy number gain	See cases	GUncertain significance
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 59567	GRCh38/hg38 7p21.3(chr7:10691723-11375132)x3	LOC100131472, LOC113687186 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148289	GRCh38/hg38 7p21.3(chr7:10835790-11523056)x3	LOC113687186, LOC129389746 +7 more	Copy number gain	See cases	GLikely benign
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 153127	GRCh38/hg38 7p21.3(chr7:11181583-12423003)x3	LOC123924901, LOC123924902 +11 more	Copy number gain	See cases	GUncertain significance
Select item 983317	NC_000007.14:g.11357596_11451599dup	THSD7A	Duplication	not provided	GUncertain significance
Select item 2217885	NM_015204.3(THSD7A):c.4964C>T (p.Ala1655Val)	THSD7A (A1655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775247	NM_015204.3(THSD7A):c.4956T>C (p.Asp1652=)	THSD7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 773490	NM_015204.3(THSD7A):c.4890-5del	THSD7A	Deletion (intron variant)	not provided	GBenign
Select item 2209979	NM_015204.3(THSD7A):c.4871C>G (p.Ser1624Cys)	THSD7A (S1624C)	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 3326000	NM_015204.3(THSD7A):c.4814A>C (p.Lys1605Thr)	THSD7A (K1605T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715898	NM_015204.3(THSD7A):c.4806G>A (p.Gly1602=)	THSD7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242273	NM_015204.3(THSD7A):c.4787A>G (p.Gln1596Arg)	THSD7A (Q1596R)	Single nucleotide variant (missense variant)	not specified	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 3177212	NM_015204.3(THSD7A):c.4733A>C (p.His1578Pro)	THSD7A (H1578P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351000	NM_015204.3(THSD7A):c.4691T>C (p.Met1564Thr)	THSD7A (M1564T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208992	NM_015204.3(THSD7A):c.4672G>A (p.Val1558Met)	THSD7A (V1558M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 776207	NM_015204.3(THSD7A):c.4598C>A (p.Thr1533Lys)	THSD7A (T1533K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2297900	NM_015204.3(THSD7A):c.4570C>T (p.Pro1524Ser)	THSD7A (P1524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776208	NM_015204.3(THSD7A):c.4560G>A (p.Pro1520=)	THSD7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2622436	NM_015204.3(THSD7A):c.4445G>C (p.Ser1482Thr)	THSD7A (S1482T)	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 2611342	NM_015204.3(THSD7A):c.4196A>T (p.Lys1399Ile)	THSD7A (K1399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722290	NM_015204.3(THSD7A):c.4134T>A (p.Asp1378Glu)	THSD7A (D1378E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2227239	NM_015204.3(THSD7A):c.4067C>T (p.Ala1356Val)	THSD7A (A1356V)	Single nucleotide variant (missense variant)	not specified	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 781897	NM_015204.3(THSD7A):c.4025G>A (p.Arg1342Gln)	THSD7A (R1342Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3048323	NM_015204.3(THSD7A):c.3941T>C (p.Val1314Ala)	THSD7A (V1314A)	Single nucleotide variant (missense variant)	THSD7A-related disorder	GLikely benign
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 2495677	NM_015204.3(THSD7A):c.3890A>C (p.Glu1297Ala)	THSD7A (E1297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724396	NM_015204.3(THSD7A):c.3798+10T>C	THSD7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2357484	NM_015204.3(THSD7A):c.3758G>A (p.Arg1253Gln)	THSD7A (R1253Q)	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 3177206	NM_015204.3(THSD7A):c.3661C>A (p.His1221Asn)	THSD7A (H1221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364379	NM_015204.3(THSD7A):c.3635C>G (p.Pro1212Arg)	THSD7A (P1212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258258	NM_015204.3(THSD7A):c.3616A>C (p.Asn1206His)	THSD7A (N1206H)	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 3177205	NM_015204.3(THSD7A):c.3560G>A (p.Arg1187Gln)	THSD7A (R1187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336192	NM_015204.3(THSD7A):c.3530G>A (p.Cys1177Tyr)	THSD7A (C1177Y)	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 3177204	NM_015204.3(THSD7A):c.3505T>C (p.Ser1169Pro)	THSD7A (S1169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210861	NM_015204.3(THSD7A):c.3504A>G (p.Ile1168Met)	THSD7A (I1168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349403	NM_015204.3(THSD7A):c.3500T>C (p.Val1167Ala)	THSD7A (V1167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238823	NM_015204.3(THSD7A):c.3497G>A (p.Cys1166Tyr)	THSD7A (C1166Y)	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 3177203	NM_015204.3(THSD7A):c.3443C>A (p.Pro1148Gln)	THSD7A (P1148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234633	NM_015204.3(THSD7A):c.3398C>T (p.Thr1133Ile)	THSD7A (T1133I)	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 2216737	NM_015204.3(THSD7A):c.3343C>T (p.Arg1115Trp)	THSD7A (R1115W)	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 3048841	NM_015204.3(THSD7A):c.3244-10A>C	THSD7A	Single nucleotide variant (intron variant)	THSD7A-related disorder	GLikely benign
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 2565468	NM_015204.3(THSD7A):c.3032G>A (p.Arg1011Lys)	THSD7A (R1011K)	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 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 2216818	NM_015204.3(THSD7A):c.2861A>C (p.Gln954Pro)	THSD7A (Q954P)	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 3177195	NM_015204.3(THSD7A):c.2756A>G (p.Asn919Ser)	THSD7A (N919S)	Single nucleotide variant (missense variant)	not specified	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 3326005	NM_015204.3(THSD7A):c.2714A>G (p.Asp905Gly)	THSD7A (D905G)	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 2318076	NM_015204.3(THSD7A):c.2669G>A (p.Gly890Asp)	THSD7A (G890D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364416	NM_015204.3(THSD7A):c.2618G>A (p.Arg873His)	THSD7A (R873H)	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 711127	NM_015204.3(THSD7A):c.2564_2566dup (p.Pro855_Gly856insAla)	THSD7A	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 2358385	NM_015204.3(THSD7A):c.2548G>A (p.Val850Met)	THSD7A (V850M)	Single nucleotide variant (missense variant)	not specified	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 768141	NM_015204.3(THSD7A):c.2487G>T (p.Ala829=)	THSD7A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3325998	NM_015204.3(THSD7A):c.2477C>A (p.Ala826Glu)	THSD7A (A826E)	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 2227353	NM_015204.3(THSD7A):c.2467G>T (p.Ala823Ser)	THSD7A (A823S)	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 3325989	NM_015204.3(THSD7A):c.2435G>A (p.Arg812Gln)	THSD7A (R812Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362398	NM_015204.3(THSD7A):c.2407A>G (p.Ile803Val)	THSD7A (I803V)	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 2318589	NM_015204.3(THSD7A):c.2399A>G (p.His800Arg)	THSD7A (H800R)	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 2256090	NM_015204.3(THSD7A):c.2270G>A (p.Arg757Gln)	THSD7A (R757Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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