11357[HGNC] - ClinVar

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Items: 59

	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 148834	GRCh38/hg38 10p12.33(chr10:17632287-17934423)x1	LOC129390145, MIR511 +4 more	Copy number loss	See cases	GLikely benign
Select item 2225162	NM_003473.4(STAM):c.116C>G (p.Ser39Cys)	STAM (S39C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204671	NM_003473.4(STAM):c.119G>A (p.Arg40His)	STAM (R40H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3170891	NM_003473.4(STAM):c.121A>C (p.Thr41Pro)	STAM (T41P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 778035	NM_003473.4(STAM):c.123T>C (p.Thr41=)	STAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2546284	NM_003473.4(STAM):c.184G>A (p.Ala62Thr)	STAM (A12T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3170895	NM_003473.4(STAM):c.217G>T (p.Val73Leu)	STAM (V23L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2457419	NM_003473.4(STAM):c.329C>G (p.Ala110Gly)	STAM (A78G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530744	NM_003473.4(STAM):c.500T>A (p.Val167Glu)	STAM (V117E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484190	NM_003473.4(STAM):c.512A>T (p.Lys171Ile)	STAM (K43I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323062	NM_003473.4(STAM):c.533A>T (p.Lys178Ile)	STAM (K50I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379194	NM_003473.4(STAM):c.577A>G (p.Thr193Ala)	STAM (T161A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170897	NM_003473.4(STAM):c.627A>C (p.Gln209His)	STAM (Q209H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323058	NM_003473.4(STAM):c.647G>A (p.Arg216His)	STAM (R184H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323061	NM_003473.4(STAM):c.649G>T (p.Ala217Ser)	STAM (A120S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208387	NM_003473.4(STAM):c.694A>G (p.Lys232Glu)	STAM (K121E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782149	NM_003473.4(STAM):c.728+4A>G	STAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2523158	NM_003473.4(STAM):c.877A>G (p.Ile293Val)	STAM (I196V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341589	NM_003473.4(STAM):c.947G>A (p.Ser316Asn)	STAM (S188N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170898	NM_003473.4(STAM):c.977T>C (p.Leu326Pro)	STAM (L215P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265241	NM_003473.4(STAM):c.988C>A (p.Leu330Ile)	STAM (L202I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287340	NM_003473.4(STAM):c.992A>G (p.His331Arg)	STAM (H220R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170890	NM_003473.4(STAM):c.1109T>C (p.Leu370Ser)	STAM (L259S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347398	NM_003473.4(STAM):c.1256A>T (p.Asn419Ile)	STAM (N322I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405983	NM_003473.4(STAM):c.1274T>G (p.Leu425Arg)	STAM (L375R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352427	NM_003473.4(STAM):c.1295C>T (p.Pro432Leu)	STAM (P321L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608937	NM_003473.4(STAM):c.1306T>C (p.Ser436Pro)	STAM (S308P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478149	NM_003473.4(STAM):c.1322C>A (p.Ala441Glu)	STAM (A344E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170892	NM_003473.4(STAM):c.1334C>T (p.Pro445Leu)	STAM (P348L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170893	NM_003473.4(STAM):c.1340C>T (p.Ala447Val)	STAM (A415V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551768	NM_003473.4(STAM):c.1405C>G (p.Gln469Glu)	STAM (Q437E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323060	NM_003473.4(STAM):c.1430C>T (p.Ala477Val)	STAM (A445V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542559	NM_003473.4(STAM):c.1435G>A (p.Val479Ile)	STAM (V351I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211334	NM_003473.4(STAM):c.1490T>G (p.Leu497Arg)	STAM (L386R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348528	NM_003473.4(STAM):c.1511A>G (p.Asn504Ser)	STAM (N376S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323059	NM_003473.4(STAM):c.1526C>G (p.Pro509Arg)	STAM (P381R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170894	NM_003473.4(STAM):c.1579C>T (p.Pro527Ser)	STAM (P399S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326907	NM_003473.4(STAM):c.1587G>T (p.Gln529His)	STAM (Q401H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251157	NM_003473.4(STAM):c.1603T>C (p.Ser535Pro)	STAM (S438P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684596	GRCh37/hg19 10p13-12.33(chr10:17253134-17723521)x3	HACD1, ST8SIA6 +2 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 1808778	GRCh37/hg19 10p12.33(chr10:17376968-18486923)x3	CACNB2, HACD1 +3 more	Copy number gain	not provided	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 1410118	NC_000010.10:g.(?_16866974)_(18828653_?)dup	CACNB2, CUBN +6 more	Duplication	not provided	GUncertain significance
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 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443635	GRCh37/hg19 10p12.33(chr10:17450489-18106263)x3	HACD1, ST8SIA6 +1 more	Copy number gain	See cases	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

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Items: 59