ClinVar for Gene (Select 389114) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197562	NM_207404.4(ZNF662):c.881A>T (p.His294Leu)	ZNF662 (H320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197561	NM_207404.4(ZNF662):c.800A>G (p.Gln267Arg)	ZNF662 (Q267R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197560	NM_207404.4(ZNF662):c.665G>A (p.Cys222Tyr)	ZNF662 (C222Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197558	NM_207404.4(ZNF662):c.611A>G (p.Asn204Ser)	ZNF662 (N230S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197557	NM_207404.4(ZNF662):c.581G>A (p.Cys194Tyr)	ZNF662 (C194Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197556	NM_207404.4(ZNF662):c.527A>G (p.Asn176Ser)	ZNF662 (N176S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197555	NM_207404.4(ZNF662):c.-94+238C>T	ZNF662 (L19F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197554	NM_207404.4(ZNF662):c.422A>G (p.Tyr141Cys)	ZNF662 (Y141C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197553	NM_207404.4(ZNF662):c.106C>T (p.Pro36Ser)	ZNF662 (P96S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197551	NM_207404.4(ZNF662):c.-57T>C	ZNF662 (S43P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197550	NM_207404.4(ZNF662):c.1139G>C (p.Arg380Thr)	ZNF662 (R406T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197549	NM_207404.4(ZNF662):c.1009T>A (p.Cys337Ser)	ZNF662 (C337S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197548	NM_207404.4(ZNF662):c.991C>G (p.Pro331Ala)	ZNF662 (P331A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653719	NM_207404.4(ZNF662):c.1267CTT[1] (p.Leu424del)	ZNF662 (L424del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2653718	NM_207404.4(ZNF662):c.334T>G (p.Ser112Ala)	ZNF662 (S112A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653717	NM_207404.4(ZNF662):c.-94+246A>G	ZNF662	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617038	NM_207404.4(ZNF662):c.390A>C (p.Glu130Asp)	ZNF662 (E156D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610120	NM_207404.4(ZNF662):c.1228C>A (p.His410Asn)	ZNF662 (H436N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606211	NM_207404.4(ZNF662):c.-94+250C>T	ZNF662 (P23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597405	NM_207404.4(ZNF662):c.794G>A (p.Arg265His)	ZNF662 (R265H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555096	NM_207404.4(ZNF662):c.580T>C (p.Cys194Arg)	ZNF662 (C194R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527911	NM_207404.4(ZNF662):c.1226G>A (p.Arg409His)	ZNF662 (R409H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519530	NM_207404.4(ZNF662):c.682G>T (p.Ala228Ser)	ZNF662 (A254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509545	NM_207404.4(ZNF662):c.641A>G (p.His214Arg)	ZNF662 (H214R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482779	NM_207404.4(ZNF662):c.820A>G (p.Lys274Glu)	ZNF662 (K300E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412046	NM_207404.4(ZNF662):c.-21A>G	ZNF662 (R55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397895	NM_207404.4(ZNF662):c.436C>T (p.Arg146Cys)	ZNF662 (R172C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393593	NM_207404.4(ZNF662):c.793C>G (p.Arg265Gly)	ZNF662 (R265G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391876	NM_207404.4(ZNF662):c.659A>G (p.Tyr220Cys)	ZNF662 (Y220C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389958	NM_207404.4(ZNF662):c.1145A>G (p.His382Arg)	ZNF662 (H382R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372017	NM_207404.4(ZNF662):c.137G>T (p.Arg46Met)	ZNF662 (R106M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339003	NM_207404.4(ZNF662):c.283T>C (p.Phe95Leu)	ZNF662 (F95L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320334	NM_207404.4(ZNF662):c.367T>G (p.Leu123Val)	ZNF662 (L123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304256	NM_207404.4(ZNF662):c.1132C>T (p.His378Tyr)	ZNF662 (H404Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277604	NM_207404.4(ZNF662):c.292A>G (p.Lys98Glu)	ZNF662 (K124E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269395	NM_207404.4(ZNF662):c.148T>G (p.Ser50Ala)	ZNF662 (S50A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232774	NM_207404.4(ZNF662):c.613G>C (p.Glu205Gln)	ZNF662 (E231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231539	NM_207404.4(ZNF662):c.560A>G (p.Asn187Ser)	ZNF662 (N187S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227278	NM_207404.4(ZNF662):c.575A>G (p.Tyr192Cys)	ZNF662 (Y192C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	POMGNT2, SEC22C +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	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	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 45