"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LARGE1"[ge - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95171	NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)	LARGE1 (R665H +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 194517	NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 703585	NM_133642.5(LARGE1):c.1902C>T (p.His634=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 384484	NM_133642.5(LARGE1):c.1791C>T (p.Phe597=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	LARGE1-related condition +3 more	GLikely benign
Select item 167250	NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	LARGE1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 777864	NM_133642.5(LARGE1):c.1785C>T (p.Pro595=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 809354	NM_133642.5(LARGE1):c.1775T>C (p.Met592Thr)	LARGE1 (M592T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 95167	NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)	LARGE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 259530	NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211369	NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)	LARGE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 167251	NM_133642.5(LARGE1):c.1577G>A (p.Arg526His)	LARGE1 (R526H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2571155	NM_133642.5(LARGE1):c.1452-1058A>T	LARGE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 533120	NM_133642.5(LARGE1):c.1416G>A (p.Thr472=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3027075	NM_133642.5(LARGE1):c.1314C>T (p.Asp438=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695042	NM_133642.5(LARGE1):c.1159C>G (p.Leu387Val)	LARGE1 (L186V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289726	NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)	LARGE1	Single nucleotide variant (synonymous variant)	LARGE1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 287758	NM_133642.5(LARGE1):c.909T>G (p.Leu303=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 871549	NM_133642.5(LARGE1):c.728C>G (p.Thr243Arg)	LARGE1 (T243R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131126	NM_133642.5(LARGE1):c.690T>C (p.Thr230=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1879554	NM_133642.5(LARGE1):c.550A>G (p.Thr184Ala)	LARGE1 (T184A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026631	NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys)	LARGE1 (E179K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 464476	NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp)	LARGE1 (R165W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 705008	NM_133642.5(LARGE1):c.432C>T (p.Cys144=)	LARGE1	Single nucleotide variant (synonymous variant)	LARGE1-related condition +2 more	GLikely benign
Select item 1161040	NM_133642.5(LARGE1):c.417C>T (p.His139=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GLikely benign
Select item 1150048	NM_133642.5(LARGE1):c.252C>T (p.Ser84=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GConflicting classifications of pathogenicity
Select item 158807	NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)	LARGE1 (E71K)	Single nucleotide variant (missense variant)	Muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1176017	GRCh37/hg19 22q12.3(chr22:33960834-34046791)x1	LARGE1	Copy number loss	not provided	GLikely pathogenic
Select item 871615	GRCh37/hg19 22q12.3(chr22:33960834-34046791)x3	LARGE1	Copy number gain	not provided	GLikely pathogenic

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Items: 28