ClinVar for Gene (Select 100132159) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262986	NM_005185.4(CALML3):c.340G>A (p.Gly114Arg)	CALML3, CALML3-AS1 (G114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262985	NM_005185.4(CALML3):c.345G>C (p.Glu115Asp)	CALML3, CALML3-AS1 (E115D)	Single nucleotide variant (missense variant)	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 3136747	NM_005185.4(CALML3):c.428T>A (p.Val143Asp)	CALML3, CALML3-AS1 (V143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136746	NM_005185.4(CALML3):c.325G>A (p.Val109Ile)	CALML3, CALML3-AS1 (V109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136745	NM_005185.4(CALML3):c.173G>A (p.Arg58Gln)	CALML3, CALML3-AS1 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527606	NM_005185.4(CALML3):c.164A>G (p.Glu55Gly)	CALML3, CALML3-AS1 (E55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368218	NM_005185.4(CALML3):c.253G>C (p.Glu85Gln)	CALML3, CALML3-AS1 (E85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310673	NM_005185.4(CALML3):c.266C>A (p.Ala89Asp)	CALML3, CALML3-AS1 (A89D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266954	NM_005185.4(CALML3):c.172C>T (p.Arg58Trp)	CALML3, CALML3-AS1 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262051	NM_005185.4(CALML3):c.290G>A (p.Gly97Asp)	CALML3, CALML3-AS1 (G97D)	Single nucleotide variant (missense variant)	not specified	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 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	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 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 815316	GRCh37/hg19 10p15.1(chr10:5201443-5658539)x1	NET1, CALML3 +5 more	Copy number loss	not provided	GUncertain significance
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 685737	GRCh37/hg19 10p15.1(chr10:5544108-5956516)x3	ANKRD16, ASB13 +5 more	Copy number gain	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
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 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 152787	GRCh38/hg38 10p15.1(chr10:5406594-5566679)x3	CALML3, CALML3-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 152194	GRCh38/hg38 10p15.1(chr10:5161663-5599060)x1	AKR1C4, AKR1C8 +27 more	Copy number loss	See cases	GLikely benign
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 148178	GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3	AKR1C1, AKR1C2 +52 more	Copy number gain	See cases	GUncertain significance
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
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 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	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: 46