ClinVar for Gene (Select 8773) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321103	NM_003825.4(SNAP23):c.124A>G (p.Ile42Val)	SNAP23 (I42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321102	NM_003825.4(SNAP23):c.146A>G (p.Lys49Arg)	SNAP23 (K49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321101	NM_003825.4(SNAP23):c.221C>T (p.Thr74Ile)	SNAP23 (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166847	NM_003825.4(SNAP23):c.590G>A (p.Arg197His)	LRRC57, SNAP23 (R144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166846	NM_003825.4(SNAP23):c.211A>G (p.Lys71Glu)	SNAP23 (K71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068018	NM_003825.4(SNAP23):c.143A>T (p.Gln48Leu)	SNAP23 (Q48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2684756	GRCh37/hg19 15q15.1-15.2(chr15:42629809-43042062)x3	CAPN3, CDAN1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2621320	NM_003825.4(SNAP23):c.575A>G (p.Asp192Gly)	LRRC57, SNAP23 (D192G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614496	NM_003825.4(SNAP23):c.160C>T (p.Arg54Cys)	SNAP23 (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591324	NM_003825.4(SNAP23):c.292G>A (p.Ala98Thr)	SNAP23 (A98T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554117	NM_003825.4(SNAP23):c.455T>C (p.Met152Thr)	LRRC57, SNAP23 (M99T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386931	NM_003825.4(SNAP23):c.292G>T (p.Ala98Ser)	SNAP23 (A98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325484	NM_003825.4(SNAP23):c.226C>A (p.Leu76Ile)	SNAP23 (L76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283011	NM_003825.4(SNAP23):c.462G>C (p.Glu154Asp)	LRRC57, SNAP23 (E154D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442327	GRCh37/hg19 15q15.1-15.2(chr15:42671557-42928900)x1	CAPN3, HAUS2 +4 more	Copy number loss	See cases	GUncertain significance
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24