Related gene-specific medical variations for Gene (Select 30815) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322968	NM_013443.5(ST6GALNAC6):c.898C>T (p.His300Tyr)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (H325Y +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3322967	NM_013443.5(ST6GALNAC6):c.107G>A (p.Ser36Asn)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (S61N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322966	NM_013443.5(ST6GALNAC6):c.232C>T (p.Arg78Cys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R44C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170704	NM_013443.5(ST6GALNAC6):c.91C>T (p.Arg31Cys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R56C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170703	NM_013443.5(ST6GALNAC6):c.683G>A (p.Arg228Gln)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R253Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170702	NM_013443.5(ST6GALNAC6):c.673G>A (p.Asp225Asn)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (D191N +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170701	NM_013443.5(ST6GALNAC6):c.557C>T (p.Pro186Leu)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (P186L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170700	NM_013443.5(ST6GALNAC6):c.401G>T (p.Arg134Leu)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R134L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3170699	NM_013443.5(ST6GALNAC6):c.124C>T (p.Arg42Trp)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R67W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3026969	NM_013443.5(ST6GALNAC6):c.813-4C>T	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2621146	NM_013443.5(ST6GALNAC6):c.655C>T (p.Arg219Cys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R219C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2605623	NM_013443.5(ST6GALNAC6):c.44T>C (p.Leu15Pro)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (L15P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2508088	NM_013443.5(ST6GALNAC6):c.592C>T (p.Arg198Cys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R164C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2492715	NM_013443.5(ST6GALNAC6):c.80C>A (p.Pro27His)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (P52H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2454447	NM_013443.5(ST6GALNAC6):c.11C>T (p.Ser4Leu)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (S4L)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2384329	NM_013443.5(ST6GALNAC6):c.824G>A (p.Arg275His)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (A274T +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2382961	NM_013443.5(ST6GALNAC6):c.521G>A (p.Arg174Gln)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R174Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2382258	NM_013443.5(ST6GALNAC6):c.652G>A (p.Gly218Ser)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (G218S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2377975	NM_013443.5(ST6GALNAC6):c.695G>A (p.Gly232Asp)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (G198D +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2346384	NM_013443.5(ST6GALNAC6):c.775G>A (p.Val259Met)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (V225M +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2317162	NM_013443.5(ST6GALNAC6):c.139G>A (p.Val47Met)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (V47M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2269139	NM_013443.5(ST6GALNAC6):c.308C>T (p.Ser103Phe)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (S69F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2227404	NM_013443.5(ST6GALNAC6):c.89G>A (p.Arg30Lys)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R30K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2212008	NM_013443.5(ST6GALNAC6):c.682C>T (p.Arg228Trp)	ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6 (R194W +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

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Links from Gene

Items: 24