18470[HGNC] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192729	NM_001135179.2(ZDHHC3):c.682C>T (p.Leu228Phe)	ZDHHC3 (L228F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 98366	NM_001135179.2(ZDHHC3):c.617G>C (p.Ser206Thr)	ZDHHC3 (S206T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 3192728	NM_001135179.2(ZDHHC3):c.398G>A (p.Cys133Tyr)	ZDHHC3 (C167Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274678	NM_001135179.2(ZDHHC3):c.346G>A (p.Glu116Lys)	ZDHHC3 (E116K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739869	NM_001135179.2(ZDHHC3):c.306+504G>A	ZDHHC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2468754	NM_001135179.2(ZDHHC3):c.287G>A (p.Arg96Gln)	LOC126806665, ZDHHC3 (R96Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238247	NM_001135179.2(ZDHHC3):c.241A>G (p.Ile81Val)	LOC126806665, ZDHHC3 (I81V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192727	NM_001135179.2(ZDHHC3):c.220G>A (p.Val74Met)	LOC126806665, ZDHHC3 (V74M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353714	NM_001135179.2(ZDHHC3):c.212G>A (p.Arg71Gln)	LOC126806665, ZDHHC3 (R71Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 98367	NM_001135179.2(ZDHHC3):c.147C>T (p.Ile49=)	LOC126806665, ZDHHC3	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided
Select item 2224353	NM_001135179.2(ZDHHC3):c.136G>A (p.Ala46Thr)	LOC126806665, ZDHHC3 (A46T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 98368	NM_001135179.2(ZDHHC3):c.86A>G (p.Tyr29Cys)	LOC126806665, ZDHHC3 (Y29C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512318	NM_001135179.2(ZDHHC3):c.83C>G (p.Pro28Arg)	LOC126806665, ZDHHC3 (P28R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685915	GRCh37/hg19 3p21.31(chr3:44563378-45177006)x3	CDCP1, CLEC3B +12 more	Copy number gain	not provided	GUncertain significance
Select item 2685079	GRCh37/hg19 3p21.31(chr3:44857814-45025105)x1	EXOSC7, KIF15 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 814439	GRCh37/hg19 3p21.31(chr3:44444902-45413927)x1	CDCP1, CLEC3B +16 more	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 21