Related gene-specific medical variations for Gene (Select 8218) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048116	NM_007098.4(CLTCL1):c.1342C>A (p.Leu448Ile)	CLTCL1, LOC126863097 (L448I)	Single nucleotide variant (missense variant)	CLTCL1-related condition	GBenign
Select item 2688796	NM_007098.4(CLTCL1):c.3595C>T (p.Gln1199Ter)	CLTCL1 (Q1199*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2526464	NM_007098.4(CLTCL1):c.1190C>T (p.Thr397Met)	CLTCL1, LOC126863097 (T397M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405569	NM_007098.4(CLTCL1):c.1390G>A (p.Gly464Arg)	CLTCL1, LOC126863097 (G464R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287317	NM_007098.4(CLTCL1):c.1237C>T (p.Pro413Ser)	CLTCL1, LOC126863097 (P413S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237010	NM_007098.4(CLTCL1):c.1334A>T (p.Lys445Met)	CLTCL1, LOC126863097 (K445M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237009	NM_007098.4(CLTCL1):c.1331G>T (p.Arg444Leu)	CLTCL1, LOC126863097 (R444L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795202	NM_007098.4(CLTCL1):c.1396T>C (p.Leu466=)	CLTCL1, LOC126863097	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623973	NM_007098.4(CLTCL1):c.2200G>A (p.Ala734Thr)	CLTCL1 (A734T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 564976	GRCh37/hg19 22q11.21(chr22:19183070-19259358)x1	CLTCL1	Copy number loss	not provided	GUncertain significance
Select item 445839	NM_007098.4(CLTCL1):c.3306C>A (p.Cys1102Ter)	CLTCL1 (C1102*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 152132	GRCh38/hg38 22q11.21(chr22:19287074-19293024)x1	CLTCL1	Copy number loss	See cases	GUncertain significance