"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC44A4"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2044984	NM_025257.3(SLC44A4):c.1171G>C (p.Ala391Pro)	SLC44A4 (A349P +2 more)	Single nucleotide variant (missense variant)	SLC44A4-related disorder +1 more	GLikely benign
Select item 3048071	NM_025257.3(SLC44A4):c.978G>A (p.Met326Ile)	SLC44A4 (M250I +2 more)	Single nucleotide variant (missense variant +1 more)	SLC44A4-related disorder	GLikely benign
Select item 3036100	NM_025257.3(SLC44A4):c.951G>A (p.Ala317=)	SLC44A4	Single nucleotide variant (synonymous variant)	SLC44A4-related disorder	GLikely benign
Select item 1620675	NM_025257.3(SLC44A4):c.937+9C>T	SLC44A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1578809	NM_025257.3(SLC44A4):c.937C>G (p.Leu313Val)	SLC44A4 (L237V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2077497	NM_025257.3(SLC44A4):c.849G>T (p.Leu283=)	SLC44A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2633855	NM_025257.3(SLC44A4):c.383dup (p.Asn130fs)	SLC44A4 (N130fs +1 more)	Duplication (frameshift variant +1 more)	SLC44A4-related disorder	GUncertain significance
Select item 2415763	NM_025257.3(SLC44A4):c.207C>T (p.Asn69=)	SLC44A4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3039266	NM_025257.3(SLC44A4):c.163+6T>C	SLC44A4	Single nucleotide variant (intron variant)	SLC44A4-related disorder	GLikely benign
Select item 3030393	NM_025257.3(SLC44A4):c.117_125del (p.Leu42_Phe44del)	SLC44A4	Deletion (inframe deletion +2 more)	SLC44A4-related disorder	GLikely benign