8516[geneid] - ClinVar - NCBI

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	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 2055427	NM_003638.3(ITGA8):c.3189A>G (p.Ala1063=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2387036	NM_003638.3(ITGA8):c.3171T>A (p.Asn1057Lys)	ITGA8 (N1042K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059287	NM_003638.3(ITGA8):c.3150C>A (p.Thr1050=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739224	NM_003638.3(ITGA8):c.3105+7T>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857291	NM_003638.3(ITGA8):c.3085T>C (p.Leu1029=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065706	NM_003638.3(ITGA8):c.3079G>A (p.Ala1027Thr)	ITGA8 (A1027T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 757822	NM_003638.3(ITGA8):c.3078C>T (p.Leu1026=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517578	NM_003638.3(ITGA8):c.3013A>G (p.Asn1005Asp)	ITGA8 (N1005D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203797	NM_003638.3(ITGA8):c.3011C>T (p.Pro1004Leu)	ITGA8 (P989L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1505714	NM_003638.3(ITGA8):c.2982+3_2982+6del	ITGA8	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 126498	NM_003638.3(ITGA8):c.2982+2T>C	ITGA8	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1290122	NM_003638.3(ITGA8):c.2981T>C (p.Val994Ala)	ITGA8 (V979A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 779107	NM_003638.3(ITGA8):c.2977A>G (p.Ile993Val)	ITGA8 (I978V +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 3111272	NM_003638.3(ITGA8):c.2975G>A (p.Ser992Asn)	ITGA8 (S977N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111271	NM_003638.3(ITGA8):c.2926G>A (p.Val976Ile)	ITGA8 (V961I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053282	NM_003638.3(ITGA8):c.2921T>C (p.Phe974Ser)	ITGA8 (F974S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1237225	NM_003638.3(ITGA8):c.2881-55A>G	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277160	NM_003638.3(ITGA8):c.2881-187C>G	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264028	NM_003638.3(ITGA8):c.2881-216C>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232924	NM_003638.3(ITGA8):c.2881-220G>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268226	NM_003638.3(ITGA8):c.2881-248A>G	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279678	NM_003638.3(ITGA8):c.2881-264A>G	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253664	NM_003638.3(ITGA8):c.2880+310C>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239658	NM_003638.3(ITGA8):c.2880+102T>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250211	NM_003638.3(ITGA8):c.2880+82C>A	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232286	NM_003638.3(ITGA8):c.2880+47G>A	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227742	NM_003638.3(ITGA8):c.2880+46T>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2906333	NM_003638.3(ITGA8):c.2880+10A>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3286744	NM_003638.3(ITGA8):c.2849G>C (p.Arg950Thr)	ITGA8 (R950T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2721892	NM_003638.3(ITGA8):c.2841G>T (p.Leu947=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185181	NM_003638.3(ITGA8):c.2833G>A (p.Ala945Thr)	ITGA8 (A930T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055610	NM_003638.3(ITGA8):c.2817C>T (p.Leu939=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2222883	NM_003638.3(ITGA8):c.2813G>A (p.Arg938Gln)	ITGA8 (R938Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1706540	NM_003638.3(ITGA8):c.2804dup (p.Val936fs)	ITGA8 (V921fs +1 more)	Duplication (frameshift variant)	Renal hypodysplasia/aplasia 1	GPathogenic
Select item 781192	NM_003638.3(ITGA8):c.2803G>A (p.Ala935Thr)	ITGA8 (A935T +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 2861335	NM_003638.3(ITGA8):c.2796C>T (p.Ile932=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2284652	NM_003638.3(ITGA8):c.2793A>C (p.Gln931His)	ITGA8 (Q916H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1927424	NM_003638.3(ITGA8):c.2782G>A (p.Glu928Lys)	ITGA8 (E913K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286743	NM_003638.3(ITGA8):c.2774C>A (p.Thr925Lys)	ITGA8 (T910K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383834	NM_003638.3(ITGA8):c.2771G>C (p.Cys924Ser)	ITGA8 (C924S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1221462	NM_003638.3(ITGA8):c.2766+81A>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2871938	NM_003638.3(ITGA8):c.2748G>A (p.Gln916=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239179	NM_003638.3(ITGA8):c.2745A>G (p.Arg915=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908343	NM_003638.3(ITGA8):c.2734G>A (p.Glu912Lys)	ITGA8 (E897K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207669	NM_003638.3(ITGA8):c.2723T>C (p.Val908Ala)	ITGA8 (V893A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2019234	NM_003638.3(ITGA8):c.2713A>C (p.Lys905Gln)	ITGA8 (K890Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969961	NM_003638.3(ITGA8):c.2709C>A (p.Val903=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114137	NM_003638.3(ITGA8):c.2703T>A (p.His901Gln)	ITGA8 (H886Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292072	NM_003638.3(ITGA8):c.2699C>G (p.Pro900Arg)	ITGA8 (P885R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513531	NM_003638.3(ITGA8):c.2674G>A (p.Ala892Thr)	ITGA8 (A877T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031827	NM_003638.3(ITGA8):c.2673C>T (p.Ser891=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 728043	NM_003638.3(ITGA8):c.2664T>G (p.Pro888=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763981	NM_003638.3(ITGA8):c.2661C>T (p.Thr887=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029534	NM_003638.3(ITGA8):c.2638-6T>G	ITGA8	Single nucleotide variant (intron variant)	ITGA8-related disorder	GLikely benign
Select item 1175407	NM_003638.3(ITGA8):c.2638-70T>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146160	GRCh38/hg38 10p13(chr10:15569469-16776796)x3	C1QL3, ITGA8 +22 more	Copy number gain	See cases	GBenign
Select item 1324596	NM_003638.3(ITGA8):c.2626C>T (p.Gln876Ter)	ITGA8 (Q861* +1 more)	Single nucleotide variant (nonsense)	Renal hypodysplasia/aplasia 1	GLikely pathogenic
Select item 1596513	NM_003638.3(ITGA8):c.2616T>C (p.Asn872=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102294	NM_003638.3(ITGA8):c.2613T>C (p.Pro871=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854819	NM_003638.3(ITGA8):c.2574T>G (p.His858Gln)	ITGA8 (H843Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166528	NM_003638.3(ITGA8):c.2546G>A (p.Arg849Gln)	ITGA8 (R834Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247354	NM_003638.3(ITGA8):c.2545C>G (p.Arg849Gly)	ITGA8 (R834G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2154191	NM_003638.3(ITGA8):c.2542G>T (p.Ala848Ser)	ITGA8 (A848S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2046536	NM_003638.3(ITGA8):c.2524G>A (p.Val842Met)	ITGA8 (V842M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2075619	NM_003638.3(ITGA8):c.2523G>A (p.Glu841=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1267365	NM_003638.3(ITGA8):c.2478+337C>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252693	NM_003638.3(ITGA8):c.2478+305G>A	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270850	NM_003638.3(ITGA8):c.2478+240C>G	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786150	NM_003638.3(ITGA8):c.2478+5C>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2071982	NM_003638.3(ITGA8):c.2445G>T (p.Glu815Asp)	ITGA8 (E815D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2489137	NM_003638.3(ITGA8):c.2444A>G (p.Glu815Gly)	ITGA8 (E815G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402480	NM_003638.3(ITGA8):c.2443G>A (p.Glu815Lys)	ITGA8 (E815K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111270	NM_003638.3(ITGA8):c.2442G>C (p.Glu814Asp)	ITGA8 (E799D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029022	NM_003638.3(ITGA8):c.2430G>A (p.Glu810=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 3286746	NM_003638.3(ITGA8):c.2387C>G (p.Pro796Arg)	ITGA8 (P796R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509372	NM_003638.3(ITGA8):c.2387C>T (p.Pro796Leu)	ITGA8 (P796L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484459	NM_003638.3(ITGA8):c.2383C>T (p.Pro795Ser)	ITGA8 (P795S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1395124	NM_003638.3(ITGA8):c.2367A>G (p.Ile789Met)	ITGA8 (I774M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3111269	NM_003638.3(ITGA8):c.2362G>A (p.Glu788Lys)	ITGA8 (E773K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709564	NM_003638.3(ITGA8):c.2352A>G (p.Val784=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2075814	NM_003638.3(ITGA8):c.2341A>G (p.Ile781Val)	ITGA8 (I766V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720432	NM_003638.3(ITGA8):c.2321T>A (p.Phe774Tyr)	ITGA8 (F759Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2497896	NM_003638.3(ITGA8):c.2317A>C (p.Asn773His)	ITGA8 (N758H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968279	NM_003638.3(ITGA8):c.2291+20A>T	ITGA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2466356	NM_003638.3(ITGA8):c.2275G>A (p.Asp759Asn)	ITGA8 (D744N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050019	NM_003638.3(ITGA8):c.2274C>T (p.Phe758=)	ITGA8	Single nucleotide variant (synonymous variant)	ITGA8-related disorder	GLikely benign
Select item 709864	NM_003638.3(ITGA8):c.2243G>A (p.Arg748His)	ITGA8 (R748H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2257850	NM_003638.3(ITGA8):c.2224C>T (p.Leu742Phe)	ITGA8 (L742F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111268	NM_003638.3(ITGA8):c.2194A>G (p.Met732Val)	ITGA8 (M717V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450375	NM_003638.3(ITGA8):c.2174dup (p.Cys726fs)	ITGA8 (C711fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2416809	NM_003638.3(ITGA8):c.2148G>A (p.Lys716=)	ITGA8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 591975	NM_003638.3(ITGA8):c.2139T>G (p.Cys713Trp)	ITGA8 (C713W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252376	NM_003638.3(ITGA8):c.2119-113A>G	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228858	NM_003638.3(ITGA8):c.2119-247T>C	ITGA8	Single nucleotide variant (intron variant)	not provided	GBenign

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