ClinVar for Gene (Select 7718) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335024	NM_001376491.1(ZNF165):c.136G>A (p.Glu46Lys)	ZNF165 (E46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335023	NM_001376491.1(ZNF165):c.739C>T (p.Leu247Phe)	ZNF165 (L55F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335022	NM_001376491.1(ZNF165):c.1092A>C (p.Arg364Ser)	ZNF165 (R172S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335021	NM_001376491.1(ZNF165):c.1037G>A (p.Cys346Tyr)	ZNF165 (C346Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194157	NM_001376491.1(ZNF165):c.79G>A (p.Glu27Lys)	ZNF165 (E27K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194156	NM_001376491.1(ZNF165):c.529C>T (p.Pro177Ser)	ZNF165 (P177S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194155	NM_001376491.1(ZNF165):c.190C>G (p.Arg64Gly)	ZNF165 (R64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194154	NM_001376491.1(ZNF165):c.1411C>G (p.Leu471Val)	ZNF165 (L471V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194153	NM_001376491.1(ZNF165):c.1381T>C (p.Cys461Arg)	ZNF165 (C461R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194152	NM_001376491.1(ZNF165):c.118A>G (p.Ser40Gly)	ZNF165 (S40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620817	NM_001376491.1(ZNF165):c.988A>G (p.Lys330Glu)	ZNF165 (K138E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589914	NM_001376491.1(ZNF165):c.1334G>A (p.Arg445Gln)	ZNF165 (R445Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481406	NM_001376491.1(ZNF165):c.1045T>A (p.Cys349Ser)	ZNF165 (C349S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470638	NM_001376491.1(ZNF165):c.1175G>A (p.Arg392Gln)	ZNF165 (R392Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397533	NM_001376491.1(ZNF165):c.290T>C (p.Phe97Ser)	ZNF165 (F97S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374391	NM_001376491.1(ZNF165):c.181C>T (p.Pro61Ser)	ZNF165 (P61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360403	NM_001376491.1(ZNF165):c.1171C>T (p.Arg391Trp)	ZNF165 (R199W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249290	NM_001376491.1(ZNF165):c.980A>G (p.Lys327Arg)	ZNF165 (K135R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245314	NM_001376491.1(ZNF165):c.206G>A (p.Arg69His)	ZNF165 (R69H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239962	NM_001376491.1(ZNF165):c.1229A>G (p.Asn410Ser)	ZNF165 (N218S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220692	NM_001376491.1(ZNF165):c.1151G>A (p.Ser384Asn)	ZNF165 (S384N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27