ClinVar for Gene (Select 10308) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335300	NM_003414.6(ZNF267):c.209C>T (p.Thr70Ile)	ZNF267 (T70I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194785	NM_003414.6(ZNF267):c.689G>A (p.Ser230Asn)	ZNF267 (S198N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194784	NM_003414.6(ZNF267):c.679C>G (p.Gln227Glu)	ZNF267 (Q227E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194783	NM_003414.6(ZNF267):c.659A>C (p.Asn220Thr)	ZNF267 (N220T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194782	NM_003414.6(ZNF267):c.656A>G (p.Asn219Ser)	ZNF267 (N187S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194781	NM_003414.6(ZNF267):c.646T>C (p.Tyr216His)	ZNF267 (Y184H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194779	NM_003414.6(ZNF267):c.402T>A (p.Phe134Leu)	ZNF267 (F102L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194778	NM_003414.6(ZNF267):c.23A>C (p.Asp8Ala)	ZNF267 (D8A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194777	NM_003414.6(ZNF267):c.1376C>T (p.Thr459Ile)	ZNF267 (T427I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646485	NM_003414.6(ZNF267):c.852A>G (p.Gln284=)	ZNF267	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623677	NM_003414.6(ZNF267):c.149C>T (p.Pro50Leu)	ZNF267 (P50L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623216	NM_003414.6(ZNF267):c.264G>C (p.Glu88Asp)	ZNF267 (E88D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596093	NM_003414.6(ZNF267):c.770T>C (p.Met257Thr)	ZNF267 (M257T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549187	NM_003414.6(ZNF267):c.347G>C (p.Arg116Thr)	ZNF267 (R116T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545026	NM_003414.6(ZNF267):c.1457A>G (p.His486Arg)	ZNF267 (H486R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527671	NM_003414.6(ZNF267):c.2182A>G (p.Arg728Gly)	ZNF267 (R696G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525242	NM_003414.6(ZNF267):c.1138T>A (p.Tyr380Asn)	ZNF267 (Y380N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512833	NM_003414.6(ZNF267):c.1186A>G (p.Ile396Val)	ZNF267 (I364V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484161	NM_003414.6(ZNF267):c.204G>C (p.Glu68Asp)	ZNF267 (E68D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401499	NM_003414.6(ZNF267):c.1382A>G (p.Glu461Gly)	ZNF267 (E461G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395561	NM_003414.6(ZNF267):c.1423C>T (p.Arg475Cys)	ZNF267 (R443C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377758	NM_003414.6(ZNF267):c.1723C>A (p.Pro575Thr)	ZNF267 (P543T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374101	NM_003414.6(ZNF267):c.1121A>G (p.Asp374Gly)	ZNF267 (D374G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369684	NM_003414.6(ZNF267):c.1036G>A (p.Glu346Lys)	ZNF267 (E314K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366619	NM_003414.6(ZNF267):c.1124C>A (p.Thr375Asn)	ZNF267 (T343N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364978	NM_003414.6(ZNF267):c.1867C>T (p.Arg623Trp)	ZNF267 (R591W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346233	NM_003414.6(ZNF267):c.761T>A (p.Leu254His)	ZNF267 (L254H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338673	NM_003414.6(ZNF267):c.763C>G (p.Gln255Glu)	ZNF267 (Q223E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328608	NM_003414.6(ZNF267):c.1676A>G (p.Tyr559Cys)	ZNF267 (Y559C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319228	NM_003414.6(ZNF267):c.1033A>G (p.Thr345Ala)	ZNF267 (T313A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316026	NM_003414.6(ZNF267):c.502G>A (p.Val168Ile)	ZNF267 (V168I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298621	NM_003414.6(ZNF267):c.524T>A (p.Leu175His)	ZNF267 (L143H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269832	NM_003414.6(ZNF267):c.941T>C (p.Ile314Thr)	ZNF267 (I314T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264138	NM_003414.6(ZNF267):c.2141G>C (p.Arg714Thr)	ZNF267 (R682T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256687	NM_003414.6(ZNF267):c.2154T>G (p.Cys718Trp)	ZNF267 (C686W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255996	NM_003414.6(ZNF267):c.140T>G (p.Val47Gly)	ZNF267 (V15G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216693	NM_003414.6(ZNF267):c.998A>G (p.His333Arg)	ZNF267 (H333R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212404	NM_003414.6(ZNF267):c.2035C>T (p.Arg679Trp)	ZNF267 (R647W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221519	GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	AHSP, ARMC5 +15 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
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 147205	GRCh38/hg38 16p11.2(chr16:31894396-33495702)x1	IGHV3OR16-8, LOC105369266 +8 more	Copy number loss	See cases	GBenign
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51