28375[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 2326197	NM_001042625.2(CAPSL):c.618G>C (p.Trp206Cys)	CAPSL (W206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787282	NM_001042625.2(CAPSL):c.601A>G (p.Met201Val)	CAPSL (M201V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2470497	NM_001042625.2(CAPSL):c.595A>G (p.Ile199Val)	CAPSL (I199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488018	NM_001042625.2(CAPSL):c.590A>G (p.Tyr197Cys)	CAPSL (Y197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137259	NM_001042625.2(CAPSL):c.586G>A (p.Val196Met)	CAPSL (V196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137258	NM_001042625.2(CAPSL):c.575T>C (p.Ile192Thr)	CAPSL, LOC129993795 (I192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368834	NM_001042625.2(CAPSL):c.567C>A (p.Ser189Arg)	CAPSL, LOC129993795 (S189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380660	NM_001042625.2(CAPSL):c.529A>T (p.Thr177Ser)	CAPSL, LOC129993795 (T177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244432	NM_001042625.2(CAPSL):c.451G>A (p.Gly151Arg)	CAPSL (G151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331056	NM_001042625.2(CAPSL):c.430C>T (p.His144Tyr)	CAPSL (H144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137257	NM_001042625.2(CAPSL):c.324G>T (p.Met108Ile)	CAPSL (M108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254916	NM_001042625.2(CAPSL):c.268G>T (p.Asp90Tyr)	CAPSL (D90Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137256	NM_001042625.2(CAPSL):c.238G>A (p.Val80Met)	CAPSL (V80M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307494	NM_001042625.2(CAPSL):c.225G>A (p.Met75Ile)	CAPSL (M75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338212	NM_001042625.2(CAPSL):c.200G>A (p.Gly67Glu)	CAPSL (G67E)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2467906	NM_001042625.2(CAPSL):c.181T>G (p.Phe61Val)	CAPSL (F61V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2349136	NM_001042625.2(CAPSL):c.179A>C (p.Asp60Ala)	CAPSL (D60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272946	NM_001042625.2(CAPSL):c.127G>A (p.Gly43Arg)	CAPSL (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544265	NM_001042625.2(CAPSL):c.96G>C (p.Gln32His)	CAPSL (Q32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569765	NM_001042625.2(CAPSL):c.62C>T (p.Thr21Met)	CAPSL (T21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391861	NM_001042625.2(CAPSL):c.58A>T (p.Thr20Ser)	CAPSL (T20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519200	NM_001042625.2(CAPSL):c.28G>C (p.Glu10Gln)	CAPSL (E10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336700	NM_001042625.2(CAPSL):c.4G>T (p.Ala2Ser)	CAPSL (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814680	GRCh37/hg19 5p13.2(chr5:35382352-36123330)x3	CAPSL, LMBRD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 45