ZNF785[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 2596106	NM_152458.7(ZNF785):c.1099G>C (p.Glu367Gln)	ZNF785 (E367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507994	NM_152458.7(ZNF785):c.1060G>A (p.Ala354Thr)	ZNF785 (A354T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2455555	NM_152458.7(ZNF785):c.1043G>T (p.Gly348Val)	ZNF785 (G348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401561	NM_152458.7(ZNF785):c.1043G>A (p.Gly348Asp)	ZNF785 (G348D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560144	NM_152458.7(ZNF785):c.1042G>A (p.Gly348Ser)	ZNF785 (G348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213750	NM_152458.7(ZNF785):c.995G>A (p.Arg332His)	ZNF785 (R332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259554	NM_152458.7(ZNF785):c.980T>C (p.Leu327Pro)	ZNF785 (L327P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198379	NM_152458.7(ZNF785):c.866G>C (p.Cys289Ser)	ZNF785 (C289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525855	NM_152458.7(ZNF785):c.841G>A (p.Glu281Lys)	ZNF785 (E281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456652	NM_152458.7(ZNF785):c.836C>T (p.Thr279Met)	ZNF785 (T279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198378	NM_152458.7(ZNF785):c.785A>C (p.Lys262Thr)	ZNF785 (K262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259560	NM_152458.7(ZNF785):c.725C>T (p.Ser242Phe)	ZNF785 (S242F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549374	NM_152458.7(ZNF785):c.719G>A (p.Arg240Lys)	ZNF785 (R240K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295343	NM_152458.7(ZNF785):c.717G>C (p.Gln239His)	ZNF785 (Q239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388515	NM_152458.7(ZNF785):c.703C>T (p.Arg235Cys)	ZNF785 (R235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314697	NM_152458.7(ZNF785):c.688T>A (p.Cys230Ser)	ZNF785 (C230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327806	NM_152458.7(ZNF785):c.664C>T (p.His222Tyr)	ZNF785 (H222Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302587	NM_152458.7(ZNF785):c.620C>T (p.Ala207Val)	ZNF785 (A207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259559	NM_152458.7(ZNF785):c.595C>T (p.Pro199Ser)	ZNF785 (P199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258345	NM_152458.7(ZNF785):c.592C>T (p.Arg198Trp)	ZNF785 (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353041	NM_152458.7(ZNF785):c.345T>A (p.Asp115Glu)	ZNF785 (D115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615484	NM_152458.7(ZNF785):c.311G>A (p.Ser104Asn)	ZNF785 (S104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198377	NM_152458.7(ZNF785):c.248G>C (p.Gly83Ala)	ZNF785 (G83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646384	NM_152458.7(ZNF785):c.186C>T (p.Phe62=)	ZNF785	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3259558	NM_152458.7(ZNF785):c.176G>A (p.Arg59Gln)	ZNF785 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405226	NM_152458.7(ZNF785):c.107T>C (p.Val36Ala)	LOC130058849, ZNF785 (V36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483593	NM_152458.7(ZNF785):c.26C>A (p.Pro9Gln)	LOC130058849, ZNF785 (P9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259555	NM_152458.7(ZNF785):c.20C>A (p.Pro7Gln)	LOC130058849, ZNF785 (P7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321562	NM_152458.7(ZNF785):c.8C>A (p.Pro3Gln)	LOC130058849, ZNF785 (P3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1809415	GRCh37/hg19 16p11.2(chr16:30460206-30906733)x3	BCL7C, CFAP119 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1330157	GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1	ALDOA, BOLA2B +29 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 394674	GRCh37/hg19 16p11.2(chr16:30515442-30792856)x1	CFAP119, FBRS +12 more	Copy number loss	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50