"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC4A5"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2651063	NM_133478.3(SLC4A5):c.3245_3246+1del	SLC4A5	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 2651064	NM_133478.3(SLC4A5):c.2028C>G (p.Thr676=)	SLC4A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651065	NM_133478.3(SLC4A5):c.1416C>T (p.Ser472=)	SLC4A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651066	NM_133478.3(SLC4A5):c.1229G>A (p.Arg410Gln)	SLC4A5 (R294Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651067	NM_133478.3(SLC4A5):c.339C>G (p.Leu113=)	SLC4A5	Single nucleotide variant (5 prime UTR variant +1 more)	SLC4A5-related condition +1 more	GLikely benign
Select item 2651068	NM_133478.3(SLC4A5):c.201G>A (p.Gln67=)	SLC4A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance

ClinVar