ClinVar for Gene (Select 22944) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341129	NC_000010.11:g.5955208_7871319dup	ATP5F1C, LINC00706 +104 more	Duplication	not provided	GUncertain significance
Select item 3288698	NM_012311.4(KIN):c.949A>G (p.Lys317Glu)	KIN (K317E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288697	NM_012311.4(KIN):c.505A>G (p.Thr169Ala)	KIN (T169A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3115077	NM_012311.4(KIN):c.868A>G (p.Ile290Val)	KIN (I290V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115076	NM_012311.4(KIN):c.719A>G (p.Lys240Arg)	KIN (K240R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115075	NM_012311.4(KIN):c.680C>A (p.Pro227Gln)	KIN (P227Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115074	NM_012311.4(KIN):c.481C>G (p.Gln161Glu)	KIN (Q161E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619352	NM_012311.4(KIN):c.200A>G (p.Tyr67Cys)	KIN (Y67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542432	NM_012311.4(KIN):c.834C>A (p.Asp278Glu)	KIN (D278E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542431	NM_012311.4(KIN):c.1000A>T (p.Thr334Ser)	KIN (T334S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534834	NM_012311.4(KIN):c.332A>C (p.Gln111Pro)	KIN (Q111P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490196	NM_012311.4(KIN):c.659C>G (p.Ser220Cys)	KIN (S220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471862	NM_012311.4(KIN):c.34A>G (p.Ile12Val)	KIN (I12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458723	NM_012311.4(KIN):c.463C>G (p.Leu155Val)	KIN (L155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377401	NM_012311.4(KIN):c.827G>A (p.Arg276Gln)	KIN (R276Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371477	NM_012311.4(KIN):c.611C>T (p.Thr204Met)	KIN (T204M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355885	NM_012311.4(KIN):c.551A>G (p.Lys184Arg)	KIN (K184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343332	NM_012311.4(KIN):c.631G>T (p.Ala211Ser)	KIN (A211S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321576	NM_012311.4(KIN):c.811A>G (p.Lys271Glu)	KIN (K271E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311606	NM_012311.4(KIN):c.451C>T (p.Arg151Trp)	KIN (R151W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282231	NM_012311.4(KIN):c.830C>T (p.Thr277Ile)	KIN (T277I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270580	NM_012311.4(KIN):c.1063G>A (p.Gly355Ser)	KIN (G355S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264615	NM_012311.4(KIN):c.485A>G (p.Asp162Gly)	KIN (D162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809339	GRCh37/hg19 10p14(chr10:7636590-11590970)x3	ATP5F1C, CELF2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 686098	GRCh37/hg19 10p14(chr10:7663004-7922532)x1	ATP5F1C, ITIH2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 394756	GRCh37/hg19 10p14(chr10:7377293-9129131)x1	ATP5F1C, GATA3 +5 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53