545[HGNC] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 716398	NM_001156.5(ANXA7):c.1363G>C (p.Asp455His)	ANXA7 (D437H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2343522	NM_001156.5(ANXA7):c.1339A>G (p.Met447Val)	ANXA7 (M429V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127319	NM_001156.5(ANXA7):c.1336A>T (p.Thr446Ser)	ANXA7 (T468S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127318	NM_001156.5(ANXA7):c.1309G>A (p.Ala437Thr)	ANXA7 (A437T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539901	NM_001156.5(ANXA7):c.1255C>T (p.Arg419Trp)	ANXA7 (R379W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215029	NM_001156.5(ANXA7):c.1184G>A (p.Arg395His)	ANXA7 (R395H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606346	NM_001156.5(ANXA7):c.1148G>A (p.Ser383Asn)	ANXA7 (S365N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467878	NM_001156.5(ANXA7):c.1123C>T (p.Arg375Cys)	ANXA7 (R335C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367557	NM_001156.5(ANXA7):c.1100G>A (p.Arg367Gln)	ANXA7 (R367Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548839	NM_001156.5(ANXA7):c.1099C>G (p.Arg367Gly)	ANXA7 (R327G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065768	NM_001156.5(ANXA7):c.1089+1G>T	ANXA7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2228804	NM_001156.5(ANXA7):c.1087A>G (p.Arg363Gly)	ANXA7 (R323G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1690329	NM_001156.5(ANXA7):c.1055C>T (p.Pro352Leu)	ANXA7 (P312L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744366	NM_001156.5(ANXA7):c.1011C>T (p.Thr337=)	ANXA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3299756	NM_001156.5(ANXA7):c.911T>C (p.Met304Thr)	ANXA7 (M264T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494370	NM_001156.5(ANXA7):c.869G>A (p.Arg290Lys)	ANXA7 (R290K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127322	NM_001156.5(ANXA7):c.814G>A (p.Glu272Lys)	ANXA7 (E232K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372737	NM_001156.5(ANXA7):c.767G>A (p.Arg256His)	ANXA7 (R256H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397081	NM_001156.5(ANXA7):c.766C>T (p.Arg256Cys)	ANXA7 (R216C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224514	NM_001156.5(ANXA7):c.765A>T (p.Glu255Asp)	ANXA7 (E255D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127321	NM_001156.5(ANXA7):c.728G>A (p.Ser243Asn)	ANXA7 (S243N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295229	NM_001156.5(ANXA7):c.672T>G (p.Asn224Lys)	ANXA7 (N184K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299798	NM_001156.5(ANXA7):c.556A>G (p.Ile186Val)	ANXA7 (I208V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565329	NM_001156.5(ANXA7):c.528G>A (p.Met176Ile)	ANXA7 (M158I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299766	NM_001156.5(ANXA7):c.496A>G (p.Ile166Val)	ANXA7 (I148V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127320	NM_001156.5(ANXA7):c.490G>A (p.Asp164Asn)	ANXA7 (D124N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515655	NM_001156.5(ANXA7):c.436C>T (p.Pro146Ser)	ANXA7 (P146S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223486	NM_001156.5(ANXA7):c.435+429C>T	ANXA7 (S112F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299778	NM_001156.5(ANXA7):c.296G>A (p.Gly99Glu)	ANXA7 (G59E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257245	NM_001156.5(ANXA7):c.268G>C (p.Gly90Arg)	ANXA7 (G90R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594220	NM_001156.5(ANXA7):c.185C>T (p.Ala62Val)	ANXA7 (A22V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299788	NM_001156.5(ANXA7):c.154A>C (p.Ser52Arg)	ANXA7 (S12R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550054	NM_001156.5(ANXA7):c.133G>A (p.Ala45Thr)	ANXA7 (A5T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555937	NM_001156.5(ANXA7):c.95A>G (p.Tyr32Cys)	ANXA7 (Y32C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299746	NM_001156.5(ANXA7):c.58G>T (p.Ala20Ser)	ANXA7 (A20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335426	NM_001156.5(ANXA7):c.26C>A (p.Thr9Lys)	ANXA7 (T9K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217225	NM_001156.5(ANXA7):c.22C>T (p.Pro8Ser)	ANXA7 (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
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 1527593	GRCh37/hg19 10q22.2(chr10:75089777-75359997)	ANXA7, CFAP70 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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

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Items: 53