ClinVar for Gene (Select 80013) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294897	NM_024948.4(MINDY3):c.581T>C (p.Ile194Thr)	MINDY3 (I194T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294896	NM_024948.4(MINDY3):c.1102T>C (p.Phe368Leu)	MINDY3 (F368L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294895	NM_024948.4(MINDY3):c.1267C>T (p.Arg423Cys)	MINDY3 (R250C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294894	NM_024948.4(MINDY3):c.946G>C (p.Asp316His)	MINDY3 (D143H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126589	NM_024948.4(MINDY3):c.899C>T (p.Ala300Val)	MINDY3 (A127V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126588	NM_024948.4(MINDY3):c.898G>A (p.Ala300Thr)	MINDY3 (A127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126587	NM_024948.4(MINDY3):c.868G>A (p.Val290Ile)	MINDY3 (V117I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126586	NM_024948.4(MINDY3):c.860A>C (p.His287Pro)	MINDY3 (H114P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126585	NM_024948.4(MINDY3):c.853G>A (p.Glu285Lys)	MINDY3 (E285K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126584	NM_024948.4(MINDY3):c.830T>A (p.Phe277Tyr)	MINDY3 (F104Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126583	NM_024948.4(MINDY3):c.744A>G (p.Ile248Met)	MINDY3 (I248M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126582	NM_024948.4(MINDY3):c.611C>T (p.Ala204Val)	MINDY3 (A31V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126581	NM_024948.4(MINDY3):c.53G>A (p.Ser18Asn)	MINDY3 (S18N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126580	NM_024948.4(MINDY3):c.520A>G (p.Met174Val)	MINDY3 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126579	NM_024948.4(MINDY3):c.470C>T (p.Ser157Leu)	MINDY3 (S157L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126578	NM_024948.4(MINDY3):c.448C>T (p.His150Tyr)	MINDY3 (H150Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126577	NM_024948.4(MINDY3):c.421G>T (p.Val141Phe)	MINDY3 (V141F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126576	NM_024948.4(MINDY3):c.260G>A (p.Cys87Tyr)	MINDY3 (C87Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126575	NM_024948.4(MINDY3):c.228T>A (p.Asp76Glu)	MINDY3 (D76E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126574	NM_024948.4(MINDY3):c.212A>G (p.Lys71Arg)	MINDY3 (K71R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126573	NM_024948.4(MINDY3):c.1178A>G (p.Tyr393Cys)	MINDY3 (Y220C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126572	NM_024948.4(MINDY3):c.1031T>C (p.Ile344Thr)	MINDY3 (I344T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063176	GRCh37/hg19 10p13(chr10:15634150-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063173	GRCh37/hg19 10p13(chr10:15595630-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2555003	NM_024948.4(MINDY3):c.1283A>G (p.Lys428Arg)	MINDY3 (K428R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466585	NM_024948.4(MINDY3):c.337G>A (p.Gly113Arg)	MINDY3 (G113R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464117	NM_024948.4(MINDY3):c.823C>G (p.Pro275Ala)	MINDY3 (P275A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527580	GRCh37/hg19 10p13(chr10:15631365-16749903)	C1QL3, ITGA8 +3 more	Copy number gain	not specified	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 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 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 786151	NM_024948.4(MINDY3):c.1029-5C>T	MINDY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780848	NM_024948.4(MINDY3):c.956-10dup	MINDY3	Duplication (intron variant)	not provided	GBenign
Select item 780847	NM_024948.4(MINDY3):c.1251T>C (p.Asp417=)	MINDY3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711900	NM_024948.4(MINDY3):c.731-23GTT[4]	MINDY3	Microsatellite (intron variant)	not provided	GBenign
Select item 685393	GRCh37/hg19 10p13(chr10:15661517-16163555)x3	ITGA8, MINDY3	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 563761	GRCh37/hg19 10p13(chr10:15719906-16686551)x1	ITGA8, PTER +3 more	Copy number loss	not provided	GUncertain significance
Select item 563721	GRCh37/hg19 10p13(chr10:15718480-15966080)x3	ITGA8, MINDY3	Copy number gain	not provided	GLikely benign
Select item 563708	GRCh37/hg19 10p13(chr10:15814203-15966080)x1	MINDY3	Copy number loss	not provided	GLikely benign
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 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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	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 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
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 148768	GRCh38/hg38 10p13(chr10:15727841-16109161)x1	LOC121366044, LOC129390138 +3 more	Copy number loss	See cases	GLikely benign
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 146160	GRCh38/hg38 10p13(chr10:15569469-16776796)x3	C1QL3, ITGA8 +22 more	Copy number gain	See cases	GBenign
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 57883	GRCh38/hg38 10p13(chr10:15680938-16480748)x3	ITGA8, LINC02654 +11 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 55