ClinVar for Gene (Select 121392937) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263431	NM_004347.5(CASP5):c.812A>G (p.Glu271Gly)	CASP5, LOC121392937 (E271G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137616	NM_004347.5(CASP5):c.925G>A (p.Val309Ile)	CASP5, LOC121392937 (V167I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137615	NM_004347.5(CASP5):c.770C>T (p.Ser257Phe)	CASP5, LOC121392937 (S39F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559226	NM_004347.5(CASP5):c.914A>G (p.Asp305Gly)	CASP5, LOC121392937 (D163G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210038	NM_004347.5(CASP5):c.823G>A (p.Gly275Arg)	CASP5, LOC121392937 (G133R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151264	GRCh38/hg38 11q22.3(chr11:104192271-105418437)x3	CARD16, CARD17 +16 more	Copy number gain	See cases	GLikely benign
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59773	GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3	AASDHPPT, CARD16 +40 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58921	GRCh38/hg38 11q22.3(chr11:104510196-105323725)x1	CARD16, CARD17 +14 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic