16347[HGNC] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 145611	GRCh38/hg38 7q11.22(chr7:70792749-72444391)x1	AUTS2, CALN1 +15 more	Copy number loss	See cases	GPathogenic
Select item 2535431	NM_022479.3(GALNT17):c.38T>G (p.Leu13Trp)	GALNT17 (L13W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098144	NM_022479.3(GALNT17):c.91A>G (p.Ile31Val)	GALNT17 (I31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098129	NM_022479.3(GALNT17):c.182A>G (p.Asp61Gly)	GALNT17 (D61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150043	GRCh38/hg38 7q11.22-11.23(chr7:71148562-72895414)x1	CALN1, GALNT17 +18 more	Copy number loss	See cases	GUncertain significance
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 3098130	NM_022479.3(GALNT17):c.251C>T (p.Ser84Phe)	GALNT17 (S84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098131	NM_022479.3(GALNT17):c.269G>A (p.Gly90Asp)	GALNT17 (G90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098132	NM_022479.3(GALNT17):c.281G>A (p.Arg94Gln)	GALNT17 (R94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563679	NM_022479.3(GALNT17):c.299C>T (p.Pro100Leu)	GALNT17 (P100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098133	NM_022479.3(GALNT17):c.398C>G (p.Ser133Cys)	GALNT17 (S133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098134	NM_022479.3(GALNT17):c.497C>T (p.Ser166Leu)	GALNT17 (S166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098135	NM_022479.3(GALNT17):c.526G>A (p.Val176Ile)	GALNT17 (V176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600106	NM_022479.3(GALNT17):c.583G>A (p.Asp195Asn)	GALNT17 (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787671	NM_022479.3(GALNT17):c.589+9G>A	GALNT17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3280619	NM_022479.3(GALNT17):c.629G>A (p.Arg210His)	GALNT17 (R210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098136	NM_022479.3(GALNT17):c.634C>T (p.Pro212Ser)	GALNT17 (P212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098137	NM_022479.3(GALNT17):c.637G>A (p.Gly213Arg)	GALNT17 (G213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098138	NM_022479.3(GALNT17):c.649G>A (p.Val217Met)	GALNT17 (V217M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098140	NM_022479.3(GALNT17):c.713C>G (p.Thr238Ser)	GALNT17 (T238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098141	NM_022479.3(GALNT17):c.785G>A (p.Arg262His)	GALNT17 (R262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098142	NM_022479.3(GALNT17):c.820T>G (p.Ser274Ala)	GALNT17 (S274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098143	NM_022479.3(GALNT17):c.841G>A (p.Asp281Asn)	GALNT17 (D281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603039	NM_022479.3(GALNT17):c.919C>G (p.Pro307Ala)	GALNT17 (P307A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146545	GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1	BAZ1B, BCL7B +49 more	Copy number loss	See cases	GPathogenic
Select item 155277	GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1	BAZ1B, CALN1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 144918	GRCh38/hg38 7q11.22(chr7:71590242-71808650)x3	CALN1, GALNT17 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3098122	NM_022479.3(GALNT17):c.1141C>T (p.Arg381Trp)	GALNT17 (R381W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746087	NM_022479.3(GALNT17):c.1260G>A (p.Pro420=)	GALNT17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3098123	NM_022479.3(GALNT17):c.1390G>A (p.Val464Ile)	GALNT17 (V464I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280618	NM_022479.3(GALNT17):c.1518G>C (p.Lys506Asn)	GALNT17 (K506N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485733	NM_022479.3(GALNT17):c.1540G>A (p.Ala514Thr)	GALNT17 (A514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280617	NM_022479.3(GALNT17):c.1541C>T (p.Ala514Val)	GALNT17 (A514V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098124	NM_022479.3(GALNT17):c.1600C>T (p.Arg534Trp)	GALNT17 (R534W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593317	NM_022479.3(GALNT17):c.1601G>A (p.Arg534Gln)	GALNT17 (R534Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098125	NM_022479.3(GALNT17):c.1615C>G (p.Leu539Val)	GALNT17 (L539V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098126	NM_022479.3(GALNT17):c.1625A>T (p.Asp542Val)	GALNT17 (D542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098127	NM_022479.3(GALNT17):c.1630G>A (p.Val544Ile)	GALNT17 (V544I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098128	NM_022479.3(GALNT17):c.1792A>G (p.Lys598Glu)	GALNT17 (K598E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 1808367	GRCh37/hg19 7q11.22(chr7:70729279-71014137)x3	GALNT17	Copy number gain	not provided	GUncertain significance
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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527361	GRCh37/hg19 7q11.22(chr7:69250058-71604236)	AUTS2, CALN1 +1 more	Copy number loss	not specified	GPathogenic
Select item 980829	GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1	ABHD11, ABHD11-AS1 +30 more	Copy number loss	not provided	GPathogenic
Select item 814989	GRCh37/hg19 7q11.22(chr7:71135762-71461934)x3	CALN1, GALNT17	Copy number gain	not provided	GUncertain significance
Select item 687651	GRCh37/hg19 7q11.22(chr7:71028996-71283449)x3	CALN1, GALNT17	Copy number gain	not provided	GUncertain significance
Select item 687649	GRCh37/hg19 7q11.22(chr7:71028996-71283449)x3	CALN1, GALNT17	Copy number gain	not provided	GUncertain significance
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 563416	GRCh37/hg19 7q11.22(chr7:67638834-71764461)x1	CALN1, AUTS2 +1 more	Copy number loss	not provided	GPathogenic
Select item 563325	GRCh37/hg19 7q11.22(chr7:71014126-71283581)x4	GALNT17, CALN1	Copy number gain	not provided	GUncertain significance
Select item 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	See cases	GPathogenic
Select item 443434	GRCh37/hg19 7q11.22(chr7:71008585-71723377)x3	CALN1, GALNT17	Copy number gain	See cases	GUncertain significance
Select item 443402	GRCh37/hg19 7q11.22(chr7:70000869-70780062)x3	AUTS2, GALNT17	Copy number gain	See cases	GLikely benign
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 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 183399	NC_000007.13:g.70236723_72383418del	AUTS2, CALN1 +3 more	Deletion	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	GPathogenic

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Items: 65