ClinVar for Gene (Select 54629) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126571	NM_001040450.3(MINDY2):c.946C>T (p.Arg316Cys)	MINDY2 (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126570	NM_001040450.3(MINDY2):c.698C>T (p.Ser233Phe)	MINDY2 (S233F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126569	NM_001040450.3(MINDY2):c.676A>G (p.Thr226Ala)	MINDY2 (T226A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126568	NM_001040450.3(MINDY2):c.667G>C (p.Gly223Arg)	MINDY2 (G223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126567	NM_001040450.3(MINDY2):c.660G>C (p.Glu220Asp)	MINDY2 (E220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126566	NM_001040450.3(MINDY2):c.655A>C (p.Lys219Gln)	MINDY2 (K219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126565	NM_001040450.3(MINDY2):c.598A>G (p.Arg200Gly)	MINDY2 (R200G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126564	NM_001040450.3(MINDY2):c.563G>T (p.Ser188Ile)	MINDY2 (S188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126563	NM_001040450.3(MINDY2):c.551C>A (p.Ser184Tyr)	MINDY2 (S184Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126562	NM_001040450.3(MINDY2):c.356T>C (p.Val119Ala)	MINDY2 (V119A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126561	NM_001040450.3(MINDY2):c.341C>T (p.Thr114Ile)	MINDY2 (T114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126560	NM_001040450.3(MINDY2):c.329C>T (p.Ala110Val)	MINDY2 (A110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126559	NM_001040450.3(MINDY2):c.311G>A (p.Gly104Glu)	MINDY2 (G104E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126558	NM_001040450.3(MINDY2):c.250G>T (p.Gly84Cys)	MINDY2 (G84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126557	NM_001040450.3(MINDY2):c.232C>T (p.Pro78Ser)	MINDY2 (P78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126556	NM_001040450.3(MINDY2):c.1706C>T (p.Ala569Val)	MINDY2 (A569V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126555	NM_001040450.3(MINDY2):c.1595A>G (p.Asn532Ser)	MINDY2 (N532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126554	NM_001040450.3(MINDY2):c.1591A>C (p.Ile531Leu)	MINDY2 (I531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126553	NM_001040450.3(MINDY2):c.1444G>A (p.Val482Ile)	MINDY2 (V482I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126552	NM_001040450.3(MINDY2):c.1430A>G (p.Glu477Gly)	MINDY2 (E477G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126551	NM_001040450.3(MINDY2):c.1333C>T (p.Arg445Trp)	MINDY2 (R445W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126550	NM_001040450.3(MINDY2):c.130T>A (p.Trp44Arg)	MINDY2 (W44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126549	NM_001040450.3(MINDY2):c.1300A>G (p.Thr434Ala)	MINDY2 (T434A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126548	NM_001040450.3(MINDY2):c.109G>C (p.Ala37Pro)	MINDY2 (A37P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126547	NM_001040450.3(MINDY2):c.100A>T (p.Arg34Trp)	MINDY2 (R34W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 2619648	NM_001040450.3(MINDY2):c.865A>G (p.Ile289Val)	MINDY2 (I289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537719	NM_001040450.3(MINDY2):c.308G>A (p.Arg103Lys)	MINDY2 (R103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537718	NM_001040450.3(MINDY2):c.127G>A (p.Val43Ile)	MINDY2 (V43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529572	NM_001040450.3(MINDY2):c.475A>G (p.Ser159Gly)	MINDY2 (S159G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524359	NM_001040450.3(MINDY2):c.215C>G (p.Ser72Cys)	MINDY2 (S72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486806	NM_001040450.3(MINDY2):c.1541A>T (p.Gln514Leu)	MINDY2 (Q514L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462076	NM_001040450.3(MINDY2):c.1832A>C (p.Lys611Thr)	MINDY2 (K611T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460621	NM_001040450.3(MINDY2):c.1553T>C (p.Met518Thr)	MINDY2 (M518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980524	GRCh37/hg19 15q21.3-22.1(chr15:58997072-59218740)x3	SLTM, ADAM10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49