23529[HGNC] - ClinVar

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Items: 67

	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 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 57884	GRCh38/hg38 10p12.33-12.31(chr10:18289967-19647340)x3	ARL5B, CACNB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2507618	NM_182543.5(NSUN6):c.1395A>C (p.Lys465Asn)	NSUN6 (K413N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301196	NM_182543.5(NSUN6):c.1390G>T (p.Val464Leu)	NSUN6 (V412L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202446	NM_182543.5(NSUN6):c.1372T>C (p.Phe458Leu)	NSUN6 (F458L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202445	NM_182543.5(NSUN6):c.1366A>G (p.Ile456Val)	NSUN6 (I315V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202444	NM_182543.5(NSUN6):c.1351G>A (p.Ala451Thr)	NSUN6 (A439T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068713	NM_182543.5(NSUN6):c.1320_1323del (p.Glu441fs)	NSUN6 (E300fs +4 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal recessive 82	GPathogenic
Select item 3202443	NM_182543.5(NSUN6):c.1280C>T (p.Ser427Leu)	NSUN6 (S286L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527412	NM_182543.5(NSUN6):c.1246G>C (p.Glu416Gln)	NSUN6 (E416Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510966	NM_182543.5(NSUN6):c.1223T>G (p.Met408Arg)	NSUN6 (M267R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368524	NM_182543.5(NSUN6):c.1209T>G (p.Ile403Met)	NSUN6 (I262M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339430	NM_182543.5(NSUN6):c.1193C>G (p.Pro398Arg)	NSUN6 (P386R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403291	NM_182543.5(NSUN6):c.1191G>T (p.Gln397His)	NSUN6 (Q396H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806449	NM_182543.5(NSUN6):c.1148A>G (p.Gln383Arg)	NSUN6 (Q331R +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3202442	NM_182543.5(NSUN6):c.1129C>G (p.Leu377Val)	NSUN6 (L365V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222077	NM_182543.5(NSUN6):c.1070C>T (p.Ala357Val)	NSUN6 (A345V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374518	NM_182543.5(NSUN6):c.1055G>A (p.Arg352Gln)	NSUN6 (R300Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301195	NM_182543.5(NSUN6):c.997C>T (p.Pro333Ser)	NSUN6 (P192S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068712	NM_182543.5(NSUN6):c.967G>A (p.Asp323Asn)	NSUN6 (D323N +4 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 82	GPathogenic
Select item 3202452	NM_182543.5(NSUN6):c.901G>A (p.Asp301Asn)	NSUN6 (D160N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244689	NM_182543.5(NSUN6):c.881G>C (p.Gly294Ala)	NSUN6 (G153A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480822	NM_182543.5(NSUN6):c.868T>C (p.Phe290Leu)	NSUN6 (F289L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202451	NM_182543.5(NSUN6):c.866C>A (p.Ala289Glu)	NSUN6 (A148E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247475	NM_182543.5(NSUN6):c.811A>G (p.Lys271Glu)	NSUN6 (K219E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396057	NM_182543.5(NSUN6):c.641G>A (p.Arg214His)	NSUN6 (R162H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374089	NM_182543.5(NSUN6):c.628A>G (p.Ser210Gly)	NSUN6 (S198G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223067	NM_182543.5(NSUN6):c.538A>G (p.Ser180Gly)	NSUN6 (S168G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318347	NM_182543.5(NSUN6):c.503C>T (p.Thr168Ile)	NSUN6 (T167I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599380	NM_182543.5(NSUN6):c.416C>T (p.Ser139Leu)	NSUN6 (S138L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605972	NM_182543.5(NSUN6):c.407T>G (p.Val136Gly)	NSUN6 (V135G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202449	NM_182543.5(NSUN6):c.376A>G (p.Arg126Gly)	NSUN6 (R74G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202448	NM_182543.5(NSUN6):c.343A>G (p.Ile115Val)	NSUN6 (I114V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358541	NM_182543.5(NSUN6):c.302T>C (p.Ile101Thr)	NSUN6 (I100T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202447	NM_182543.5(NSUN6):c.295C>T (p.Pro99Ser)	NSUN6 (P87S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370044	NM_182543.5(NSUN6):c.206A>G (p.Asn69Ser)	NSUN6 (N57S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332475	NM_182543.5(NSUN6):c.142C>T (p.His48Tyr)	NSUN6 (H36Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509874	NM_182543.5(NSUN6):c.118G>A (p.Glu40Lys)	NSUN6 (E28K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301194	NM_182543.5(NSUN6):c.59G>T (p.Gly20Val)	NSUN6 (G20V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202450	NM_182543.5(NSUN6):c.58G>A (p.Gly20Ser)	NSUN6 (G20S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 806450	NM_182543.5(NSUN6):c.25_26del (p.Leu9fs)	NSUN6 (L9fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2400268	NM_182543.5(NSUN6):c.7A>G (p.Ile3Val)	NSUN6 (I3V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3063179	GRCh37/hg19 10p12.31(chr10:18817509-18882774)x3	CACNB2, NSUN6	Copy number gain	not specified	GUncertain significance
Select item 2684599	GRCh37/hg19 10p12.32-12.31(chr10:18690973-18976780)x3	ARL5B, CACNB2 +1 more	Copy number gain	not provided	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 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 815323	GRCh37/hg19 10p12.31(chr10:18867069-18944902)x1	NSUN6	Copy number loss	not provided	GLikely benign
Select item 815322	GRCh37/hg19 10p12.32-12.31(chr10:18600279-20348839)x3	NSUN6, CACNB2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688272	GRCh37/hg19 10p12.31(chr10:18765120-18890374)x1	CACNB2, NSUN6	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563780	GRCh37/hg19 10p12.31(chr10:18866867-20767945)x3	NSUN6, PLXDC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563764	GRCh37/hg19 10p12.33-12.31(chr10:17766249-18867108)x3	SLC39A12, NSUN6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563762	GRCh37/hg19 10p12.33-12.31(chr10:18438918-19446074)x3	CACNB2, ARL5B +1 more	Copy number gain	not provided	GUncertain significance
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 442109	GRCh37/hg19 10p13-12.31(chr10:15966534-19063585)x1	ARL5B, C1QL3 +11 more	Copy number loss	See cases	GUncertain significance
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 441870	GRCh37/hg19 10p13-12.31(chr10:16624071-19846248)x3	ARL5B, CACNB2 +9 more	Copy number gain	See cases	GUncertain significance
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 253889	GRCh37/hg19 10p12.31(chr10:18794238-18834881)x3	CACNB2, NSUN6	Copy number gain	See cases	GUncertain significance
Select item 221471	GRCh37/hg19 10p12.33-12.31(chr10:18439858-20357134)x3	ARL5B, CACNB2 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 67