"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ERBIN"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 778867	NM_001253697.2(ERBIN):c.355A>G (p.Ile119Val)	ERBIN (I119V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2655495	NM_001253697.2(ERBIN):c.814A>G (p.Ile272Val)	ERBIN (I272V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735682	NM_001253697.2(ERBIN):c.876A>G (p.Pro292=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1335582	NM_001253697.2(ERBIN):c.1606T>G (p.Ser536Ala)	ERBIN (S532A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771149	NM_001253697.2(ERBIN):c.2733C>T (p.Val911=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 770911	NM_001253697.2(ERBIN):c.3133C>T (p.His1045Tyr)	ERBIN (H1041Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1584339	NM_001253697.2(ERBIN):c.3271C>T (p.Pro1091Ser)	ERBIN (P1087S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1494399	NM_001253697.2(ERBIN):c.3457C>T (p.Pro1153Ser)	ERBIN (P1149S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025371	NM_001253697.2(ERBIN):c.3634-3271A>T	ERBIN (N1219Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic