Related gene-specific medical variations for Gene (Select 80326) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580235	NM_025216.3(WNT10A):c.1127G>T (p.Cys376Phe)	WNT10A (C376F)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4	GUncertain significance
Select item 2576984	NM_025216.3(WNT10A):c.521T>C (p.Leu174Pro)	WNT10A (L174P)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +1 more	GLikely pathogenic
Select item 2530025	NM_025216.3(WNT10A):c.1237G>A (p.Val413Ile)	LOC129935625, WNT10A (V413I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438611	NM_025216.3(WNT10A):c.980C>A (p.Pro327Gln)	WNT10A (P327Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056394	NM_025216.3(WNT10A):c.1247G>C (p.Cys416Ser)	LOC129935625, WNT10A (C416S)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +1 more	GUncertain significance
Select item 1963852	NM_025216.3(WNT10A):c.1242C>T (p.Ser414=)	LOC129935625, WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1810750	NM_025216.3(WNT10A):c.353A>G (p.Tyr118Cys)	WNT10A (Y118C)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4	GLikely pathogenic
Select item 1704641	NM_025216.3(WNT10A):c.985C>T (p.Arg329Ter)	WNT10A (R329*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 4	GUncertain significance
Select item 1674226	NM_025216.3(WNT10A):c.1239C>A (p.Val413=)	LOC129935625, WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1089994	NM_025216.3(WNT10A):c.1251G>A (p.Lys417=)	LOC129935625, WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 989509	NM_025216.3(WNT10A):c.1162C>T (p.Arg388Cys)	WNT10A (R388C)	Single nucleotide variant (missense variant)	SchC6pf-Schulz-Passarge syndrome	GUncertain significance
Select item 898940	NM_025216.3(WNT10A):c.-70G>C	LOC129935619, WNT10A	Single nucleotide variant (5 prime UTR variant)	Odonto-onycho-dermal dysplasia +2 more	GUncertain significance
Select item 897794	NM_025216.3(WNT10A):c.-123C>A	LOC129935619, WNT10A	Single nucleotide variant (5 prime UTR variant)	Odonto-onycho-dermal dysplasia +2 more	GUncertain significance
Select item 559392	NM_025216.3(WNT10A):c.898_899del (p.Ile300fs)	WNT10A (I300fs)	Deletion (frameshift variant)	Odonto-onycho-dermal dysplasia	GPathogenic
Select item 559391	NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter)	WNT10A (C392*)	Single nucleotide variant (nonsense)	Odonto-onycho-dermal dysplasia	GPathogenic
Select item 427218	NM_025216.3(WNT10A):c.1247G>A (p.Cys416Tyr)	LOC129935625, WNT10A (C416Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 334416	NM_025216.3(WNT10A):c.*15C>T	LOC129935625, WNT10A	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 4 +2 more	GUncertain significance
Select item 334391	NM_025216.2(WNT10A):c.-149G>T	LOC129935619, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334390	NM_025216.2(WNT10A):c.-153G>A	WNT10A, LOC129935619	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334389	NM_025216.2(WNT10A):c.-194dup	LOC129935619, WNT10A	Duplication (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334388	NM_025216.2(WNT10A):c.-202G>C	LOC129935619, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Odonto-onycho-dermal dysplasia +2 more	GUncertain significance
Select item 334386	NM_025216.2(WNT10A):c.-249G>C	WNT10A, LOC129935618	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +3 more	GUncertain significance
Select item 334385	NM_025216.2(WNT10A):c.-270G>C	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334384	NM_025216.2(WNT10A):c.-285C>T	WNT10A, LOC129935618	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334383	NM_025216.2(WNT10A):c.-312C>T	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GLikely benign
Select item 334382	NM_025216.2(WNT10A):c.-341A>G	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334381	NM_025216.2(WNT10A):c.-358G>A	WNT10A, LOC129935618	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334380	NM_025216.2(WNT10A):c.-370C>A	WNT10A, LOC129935618	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334379	NM_025216.2(WNT10A):c.-400T>G	WNT10A, LOC129935618	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GLikely benign
Select item 334378	NM_025216.2(WNT10A):c.-433C>G	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance

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Links from Gene

Items: 30