LRRC57[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3120832	NM_153260.3(LRRC57):c.708G>C (p.Lys236Asn)	LRRC57 (K236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120831	NM_153260.3(LRRC57):c.658G>C (p.Glu220Gln)	LRRC57 (E220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291702	NM_153260.3(LRRC57):c.425A>T (p.Gln142Leu)	LRRC57 (Q142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291704	NM_153260.3(LRRC57):c.387C>G (p.Ser129Arg)	LRRC57 (S129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291705	NM_153260.3(LRRC57):c.382T>C (p.Cys128Arg)	LRRC57 (C128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291701	NM_153260.3(LRRC57):c.241A>T (p.Ile81Leu)	LRRC57 (I81L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120830	NM_153260.3(LRRC57):c.227T>C (p.Val76Ala)	LRRC57 (V76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295775	NM_153260.3(LRRC57):c.211A>G (p.Asn71Asp)	LRRC57 (N71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555598	NM_153260.3(LRRC57):c.208A>G (p.Asn70Asp)	LRRC57 (N70D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291703	NM_153260.3(LRRC57):c.88C>T (p.Pro30Ser)	LRRC57 (P30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543670	NM_153260.3(LRRC57):c.87C>A (p.Phe29Leu)	LRRC57 (F29L)	Single nucleotide variant (missense variant)	not specified	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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +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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Items: 26