"Ambry Genetics"[submitter] AND "ST6GALNAC4"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2276913	NM_175039.4(ST6GALNAC4):c.854G>A (p.Arg285His)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R285H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388813	NM_175039.4(ST6GALNAC4):c.824G>A (p.Arg275His)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R191H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333318	NM_175039.4(ST6GALNAC4):c.668A>G (p.Glu223Gly)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (E223G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322878	NM_175039.4(ST6GALNAC4):c.652A>G (p.Met218Val)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (M134V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170685	NM_175039.4(ST6GALNAC4):c.620C>T (p.Ser207Leu)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (S123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532255	NM_175039.4(ST6GALNAC4):c.577G>A (p.Asp193Asn)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (D109N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2234067	NM_175039.4(ST6GALNAC4):c.500G>A (p.Arg167His)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R167H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2538440	NM_175039.4(ST6GALNAC4):c.497A>G (p.Tyr166Cys)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (Y166C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170684	NM_175039.4(ST6GALNAC4):c.465G>T (p.Arg155Ser)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170683	NM_175039.4(ST6GALNAC4):c.400C>T (p.Arg134Cys)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (R50C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2231255	NM_175039.4(ST6GALNAC4):c.389C>T (p.Pro130Leu)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (P130L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2476300	NM_175039.4(ST6GALNAC4):c.385G>C (p.Val129Leu)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (V129L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170682	NM_175039.4(ST6GALNAC4):c.338C>G (p.Ala113Gly)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (A29G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170681	NM_175039.4(ST6GALNAC4):c.334G>A (p.Glu112Lys)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (E28K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2238820	NM_175039.4(ST6GALNAC4):c.298G>A (p.Val100Met)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (V100M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170680	NM_175039.4(ST6GALNAC4):c.241A>G (p.Ser81Gly)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (S81G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2411075	NM_175039.4(ST6GALNAC4):c.211G>A (p.Glu71Lys)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (E71K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2288651	NM_175039.4(ST6GALNAC4):c.187C>T (p.Pro63Ser)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (P63S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2266837	NM_175039.4(ST6GALNAC4):c.122A>G (p.His41Arg)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (H41R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2212734	NM_175039.4(ST6GALNAC4):c.43G>C (p.Val15Leu)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (V15L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2606583	NM_175039.4(ST6GALNAC4):c.25C>T (p.Leu9Phe)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (L9F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2608374	NM_175039.4(ST6GALNAC4):c.22G>A (p.Val8Met)	ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1 (V8M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

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Items: 22