23578[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	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 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	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 146160	GRCh38/hg38 10p13(chr10:15569469-16776796)x3	C1QL3, ITGA8 +22 more	Copy number gain	See cases	GBenign
Select item 57883	GRCh38/hg38 10p13(chr10:15680938-16480748)x3	ITGA8, LINC02654 +11 more	Copy number gain	See cases	GUncertain significance
Select item 148768	GRCh38/hg38 10p13(chr10:15727841-16109161)x1	LOC121366044, LOC129390138 +3 more	Copy number loss	See cases	GLikely benign
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 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 780847	NM_024948.4(MINDY3):c.1251T>C (p.Asp417=)	MINDY3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 711900	NM_024948.4(MINDY3):c.731-23GTT[4]	MINDY3	Microsatellite (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55