Related gene-specific medical variations for Gene (Select 57282) - ClinVar - NCBI

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

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361850	NM_001178015.2(SLC4A10):c.2657A>G (p.Asn886Ser)	SLC4A10 (N663S +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360618	NM_001178015.2(SLC4A10):c.179A>C (p.Lys60Thr)	SLC4A10 (K60T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360567	NM_001178015.2(SLC4A10):c.1997+4A>G	SLC4A10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807481	NM_001178015.2(SLC4A10):c.882G>A (p.Gly294=)	SLC4A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1342997	NM_001178015.2(SLC4A10):c.3308A>T (p.Asn1103Ile)	SLC4A10 (N1024I +10 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1342996	NM_001178015.2(SLC4A10):c.1730A>T (p.Lys577Met)	SLC4A10 (K354M +10 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1342970	Single allele	SLC4A10	Deletion	SLC4A10-related neurodevelopmental disorder	GLikely pathogenic
Select item 684906	GRCh37/hg19 2q24.2(chr2:162645085-162678450)x3	SLC4A10	Copy number gain	not provided	GUncertain significance
Select item 152085	GRCh38/hg38 2q24.2(chr2:161929447-161947461)x3	SLC4A10	Copy number gain	See cases	GUncertain significance