ClinVar for Gene (Select 11226) - ClinVar

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

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2642997	NM_007210.4(GALNT6):c.1704C>T (p.Phe568=)	GALNT6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617679	NM_007210.4(GALNT6):c.1266T>G (p.Ser422Arg)	GALNT6 (S422R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602595	NM_007210.4(GALNT6):c.1341T>A (p.Asn447Lys)	GALNT6 (N447K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601286	NM_007210.4(GALNT6):c.146G>A (p.Arg49Gln)	GALNT6 (R49Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2595731	NM_007210.4(GALNT6):c.1228C>T (p.Arg410Trp)	GALNT6 (R410W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588992	NM_007210.4(GALNT6):c.611C>T (p.Thr204Ile)	GALNT6 (T204I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555258	NM_007210.4(GALNT6):c.271C>T (p.Pro91Ser)	GALNT6 (P91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547307	NM_007210.4(GALNT6):c.864G>C (p.Glu288Asp)	GALNT6 (E288D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545322	NM_007210.4(GALNT6):c.721G>A (p.Val241Met)	GALNT6 (V241M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519596	NM_007210.4(GALNT6):c.131A>G (p.Lys44Arg)	GALNT6 (K44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519065	NM_007210.4(GALNT6):c.1277G>A (p.Arg426His)	GALNT6 (R426H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480075	NM_007210.4(GALNT6):c.1022G>C (p.Arg341Thr)	GALNT6 (R341T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468026	NM_007210.4(GALNT6):c.1848T>G (p.His616Gln)	GALNT6 (H616Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458208	NM_007210.4(GALNT6):c.332A>G (p.Asn111Ser)	GALNT6 (N111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411612	NM_007210.4(GALNT6):c.1166G>A (p.Arg389Gln)	GALNT6 (R389Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402471	NM_007210.4(GALNT6):c.1850A>C (p.Gln617Pro)	GALNT6 (Q617P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399130	NM_007210.4(GALNT6):c.1594G>A (p.Gly532Ser)	GALNT6 (G532S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397181	NM_007210.4(GALNT6):c.524C>G (p.Pro175Arg)	GALNT6 (P175R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395634	NM_007210.4(GALNT6):c.1286T>C (p.Val429Ala)	GALNT6 (V429A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395336	NM_007210.4(GALNT6):c.524C>T (p.Pro175Leu)	GALNT6 (P175L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392408	NM_007210.4(GALNT6):c.202A>G (p.Met68Val)	GALNT6 (M68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362288	NM_007210.4(GALNT6):c.1294G>A (p.Ala432Thr)	GALNT6 (A432T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358467	NM_007210.4(GALNT6):c.773G>C (p.Ser258Thr)	GALNT6 (S258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333298	NM_007210.4(GALNT6):c.431C>T (p.Ala144Val)	GALNT6 (A144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330227	NM_007210.4(GALNT6):c.886C>A (p.Pro296Thr)	GALNT6 (P296T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325450	NM_007210.4(GALNT6):c.561C>G (p.Asn187Lys)	GALNT6 (N187K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299597	NM_007210.4(GALNT6):c.125G>C (p.Trp42Ser)	GALNT6 (W42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281293	NM_007210.4(GALNT6):c.149A>G (p.Lys50Arg)	GALNT6 (K50R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279300	NM_007210.4(GALNT6):c.917T>C (p.Phe306Ser)	GALNT6 (F306S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276360	NM_007210.4(GALNT6):c.1526G>T (p.Cys509Phe)	GALNT6 (C509F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264428	NM_007210.4(GALNT6):c.239A>G (p.Gln80Arg)	GALNT6 (Q80R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258203	NM_007210.4(GALNT6):c.1281T>A (p.Asn427Lys)	GALNT6 (N427K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253636	NM_007210.4(GALNT6):c.1439A>G (p.Tyr480Cys)	GALNT6 (Y480C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248535	NM_007210.4(GALNT6):c.512G>A (p.Arg171Gln)	GALNT6 (R171Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211680	NM_007210.4(GALNT6):c.1426A>G (p.Asn476Asp)	GALNT6 (N476D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785406	NM_007210.4(GALNT6):c.1755+7C>T	GALNT6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784301	NM_007210.4(GALNT6):c.543G>A (p.Val181=)	GALNT6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783662	NM_007210.4(GALNT6):c.414G>C (p.Lys138Asn)	GALNT6 (K138N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770231	NM_007210.4(GALNT6):c.1267G>A (p.Val423Ile)	GALNT6 (V423I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563940	GRCh37/hg19 12q13.12-13.13(chr12:51361462-51751521)x3	GALNT6, SLC11A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47