"Ambry Genetics"[submitter] AND "CDRT4"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617939	NM_001204477.2(CDRT4):c.445A>G (p.Thr149Ala)	CDRT4, TVP23C-CDRT4 (T149A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2235234	NM_001204477.2(CDRT4):c.428T>C (p.Met143Thr)	CDRT4, TVP23C-CDRT4 (M143T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2486262	NM_001204477.2(CDRT4):c.419G>T (p.Arg140Leu)	CDRT4, TVP23C-CDRT4 (R140L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2215444	NM_001204477.2(CDRT4):c.419G>A (p.Arg140His)	CDRT4, TVP23C-CDRT4 (R140H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141727	NM_001204477.2(CDRT4):c.310G>A (p.Ala104Thr)	CDRT4, TVP23C-CDRT4 (A104T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2484891	NM_001204477.2(CDRT4):c.290C>A (p.Ser97Tyr)	CDRT4, TVP23C-CDRT4 (S97Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3265613	NM_001204477.2(CDRT4):c.179A>G (p.Glu60Gly)	CDRT4, TVP23C-CDRT4 (E60G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370756	NM_001204477.2(CDRT4):c.89C>T (p.Pro30Leu)	CDRT4, TVP23C-CDRT4 (P30L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2510869	NM_001204477.2(CDRT4):c.58C>T (p.Arg20Trp)	TVP23C-CDRT4, CDRT4 (R20W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141726	NM_001204477.2(CDRT4):c.16A>G (p.Met6Val)	CDRT4, TVP23C-CDRT4 (M6V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2297508	NM_001204477.2(CDRT4):c.14G>A (p.Arg5Lys)	CDRT4, TVP23C-CDRT4 (R5K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign