ZNF165[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 27