C1GALT1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 149268	GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3	C1GALT1, COL28A1 +42 more	Copy number gain	See cases	GLikely benign
Select item 148841	GRCh38/hg38 7p22.1-21.3(chr7:6887830-7528189)x3	C1GALT1, COL28A1 +14 more	Copy number gain	See cases	GLikely benign
Select item 148676	GRCh38/hg38 7p22.1-21.3(chr7:6887830-8054546)x3	C1GALT1, COL28A1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 151566	GRCh38/hg38 7p22.1-21.3(chr7:7097890-7295446)x3	C1GALT1, LINC03016 +5 more	Copy number gain	See cases	GLikely benign
Select item 2485158	NM_020156.5(C1GALT1):c.53T>C (p.Ile18Thr)	C1GALT1 (I18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301718	NM_020156.5(C1GALT1):c.61C>A (p.Leu21Ile)	C1GALT1 (L21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715003	NM_020156.5(C1GALT1):c.104T>G (p.Val35Gly)	C1GALT1 (V35G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2295294	NM_020156.5(C1GALT1):c.119A>G (p.Asn40Ser)	C1GALT1 (N40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262362	NM_020156.5(C1GALT1):c.176T>C (p.Leu59Pro)	C1GALT1 (L59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619837	NM_020156.5(C1GALT1):c.313A>C (p.Lys105Gln)	C1GALT1 (K105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237681	NM_020156.5(C1GALT1):c.328A>G (p.Thr110Ala)	C1GALT1 (T110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135681	NM_020156.5(C1GALT1):c.341G>A (p.Arg114His)	C1GALT1 (R114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290313	NM_020156.5(C1GALT1):c.341G>T (p.Arg114Leu)	C1GALT1 (R114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312795	NM_020156.5(C1GALT1):c.351A>C (p.Lys117Asn)	C1GALT1 (K117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272280	NM_020156.5(C1GALT1):c.397G>A (p.Gly133Arg)	C1GALT1 (G133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135682	NM_020156.5(C1GALT1):c.407C>G (p.Thr136Ser)	C1GALT1 (T136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135683	NM_020156.5(C1GALT1):c.466G>C (p.Glu156Gln)	C1GALT1 (E156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257358	NM_020156.5(C1GALT1):c.515C>T (p.Thr172Met)	C1GALT1 (T172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537982	NM_020156.5(C1GALT1):c.527T>C (p.Leu176Pro)	C1GALT1 (L176P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135685	NM_020156.5(C1GALT1):c.704G>A (p.Ser235Asn)	C1GALT1 (S235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596660	NM_020156.5(C1GALT1):c.713T>C (p.Ile238Thr)	C1GALT1 (I238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774076	NM_020156.5(C1GALT1):c.727C>T (p.Leu243=)	C1GALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135686	NM_020156.5(C1GALT1):c.751A>G (p.Asn251Asp)	C1GALT1 (N251D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256436	NM_020156.5(C1GALT1):c.782T>C (p.Ile261Thr)	C1GALT1 (I261T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303441	NM_020156.5(C1GALT1):c.819C>G (p.His273Gln)	C1GALT1 (H273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542645	NM_020156.5(C1GALT1):c.841C>T (p.Pro281Ser)	C1GALT1 (P281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545345	NM_020156.5(C1GALT1):c.1018C>G (p.Pro340Ala)	C1GALT1 (P340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390524	NM_020156.5(C1GALT1):c.1025G>A (p.Arg342His)	C1GALT1 (R342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610923	NM_020156.5(C1GALT1):c.1069A>G (p.Lys357Glu)	C1GALT1 (K357E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340409	GRCh37/hg19 7p22.1-21.3(chr7:6990891-7348633)x3	C1GALT1	Copy number gain	not provided	GLikely benign
Select item 814928	GRCh37/hg19 7p22.1-21.3(chr7:6864233-8137002)x3	C1GALT1, GLCCI1 +4 more	Copy number gain	not provided	GLikely benign
Select item 814927	GRCh37/hg19 7p22.1-21.3(chr7:6536635-7639607)x3	COL28A1, GRID2IP +9 more	Copy number gain	not provided	GLikely benign
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 687162	GRCh37/hg19 7p22.1-21.3(chr7:6874384-7786461)x3	C1GALT1, COL28A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685930	GRCh37/hg19 7p22.1(chr7:6517699-7294602)x3	C1GALT1, CCZ1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 563391	GRCh37/hg19 7p22.1-21.3(chr7:6579045-7639607)x3	ZNF12, INTS15 +9 more	Copy number gain	not provided	GLikely benign
Select item 563352	GRCh37/hg19 7p22.1-21.3(chr7:7154886-7572439)x3	C1GALT1, COL28A1	Copy number gain	not provided	GLikely benign
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443614	GRCh37/hg19 7p22.1(chr7:7039371-7245224)x1	C1GALT1	Copy number loss	See cases	GUncertain significance
Select item 443457	GRCh37/hg19 7p22.1-21.3(chr7:7243998-7770203)x3	C1GALT1, COL28A1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442388	GRCh37/hg19 7p22.1-21.3(chr7:6829890-7516815)x3	C1GALT1, CCZ1B +2 more	Copy number gain	See cases	GUncertain significance
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 394728	GRCh37/hg19 7p22.1-21.3(chr7:6870884-8177933)x3	C1GALT1, COL28A1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 393905	GRCh37/hg19 7p22.1-21.3(chr7:7274148-7422178)x3	C1GALT1, COL28A1	Copy number gain	See cases	GBenign
Select item 393849	GRCh37/hg19 7p22.1-21.3(chr7:7170439-7335077)x1	C1GALT1	Copy number loss	See cases	GLikely benign

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Items: 70