ClinVar for Gene (Select 54989) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259478	NM_014106.4(ZNF770):c.1448T>C (p.Val483Ala)	ZNF770 (V483A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259477	NM_014106.4(ZNF770):c.1160G>T (p.Gly387Val)	ZNF770 (G387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259476	NM_014106.4(ZNF770):c.1224G>T (p.Leu408Phe)	ZNF770 (L408F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259475	NM_014106.4(ZNF770):c.25A>G (p.Met9Val)	ZNF770 (M9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259474	NM_014106.4(ZNF770):c.1225C>T (p.Pro409Ser)	ZNF770 (P409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259473	NM_014106.4(ZNF770):c.1151C>T (p.Thr384Ile)	ZNF770 (T384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259471	NM_014106.4(ZNF770):c.1631A>G (p.Asn544Ser)	ZNF770 (N544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198217	NM_014106.4(ZNF770):c.742T>A (p.Leu248Ile)	ZNF770 (L248I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198216	NM_014106.4(ZNF770):c.601A>G (p.Thr201Ala)	ZNF770 (T201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198215	NM_014106.4(ZNF770):c.542T>C (p.Ile181Thr)	ZNF770 (I181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198214	NM_014106.4(ZNF770):c.372G>C (p.Lys124Asn)	ZNF770 (K124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198213	NM_014106.4(ZNF770):c.1831T>C (p.Cys611Arg)	ZNF770 (C611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198212	NM_014106.4(ZNF770):c.1765C>T (p.Pro589Ser)	ZNF770 (P589S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198211	NM_014106.4(ZNF770):c.1610T>A (p.Val537Glu)	ZNF770 (V537E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198210	NM_014106.4(ZNF770):c.1247G>A (p.Gly416Glu)	ZNF770 (G416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2595873	NM_014106.4(ZNF770):c.443A>G (p.Asp148Gly)	ZNF770 (D148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541510	NM_014106.4(ZNF770):c.962A>G (p.Lys321Arg)	ZNF770 (K321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529111	NM_014106.4(ZNF770):c.311A>G (p.Asn104Ser)	ZNF770 (N104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521438	NM_014106.4(ZNF770):c.452A>G (p.Tyr151Cys)	ZNF770 (Y151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521437	NM_014106.4(ZNF770):c.427C>G (p.Pro143Ala)	ZNF770 (P143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517045	NM_014106.4(ZNF770):c.734G>A (p.Arg245Gln)	ZNF770 (R245Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516399	NM_014106.4(ZNF770):c.459G>C (p.Met153Ile)	ZNF770 (M153I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476317	NM_014106.4(ZNF770):c.320A>G (p.Tyr107Cys)	ZNF770 (Y107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468054	NM_014106.4(ZNF770):c.1271C>T (p.Thr424Met)	ZNF770 (T424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461647	NM_014106.4(ZNF770):c.1033C>T (p.Arg345Cys)	ZNF770 (R345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394604	NM_014106.4(ZNF770):c.1393A>G (p.Arg465Gly)	ZNF770 (R465G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372881	NM_014106.4(ZNF770):c.425A>G (p.His142Arg)	ZNF770 (H142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342754	NM_014106.4(ZNF770):c.1129A>T (p.Ser377Cys)	ZNF770 (S377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306774	NM_014106.4(ZNF770):c.1641T>A (p.Asn547Lys)	ZNF770 (N547K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278272	NM_014106.4(ZNF770):c.1034G>A (p.Arg345His)	ZNF770 (R345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255058	NM_014106.4(ZNF770):c.1268T>G (p.Leu423Arg)	ZNF770 (L423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254003	NM_014106.4(ZNF770):c.989A>G (p.Tyr330Cys)	ZNF770 (Y330C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246920	NM_014106.4(ZNF770):c.1292T>C (p.Ile431Thr)	ZNF770 (I431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240188	NM_014106.4(ZNF770):c.1637C>T (p.Ser546Phe)	ZNF770 (S546F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232775	NM_014106.4(ZNF770):c.1841C>T (p.Ser614Leu)	ZNF770 (S614L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526440	GRCh37/hg19 15q14(chr15:34881568-35447442)	ACTC1, AQR +2 more	Copy number gain	not specified	GUncertain significance
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	ACTC1, AQR +99 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57