ClinVar for Gene (Select 441250) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185302	NM_001145440.3(TYW1B):c.889A>G (p.Asn297Asp)	TYW1B (N297D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185300	NM_001145440.3(TYW1B):c.467T>G (p.Leu156Arg)	TYW1B (L156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185299	NM_001145440.3(TYW1B):c.376A>G (p.Met126Val)	TYW1B (M126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185298	NM_001145440.3(TYW1B):c.352T>C (p.Phe118Leu)	TYW1B (F118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185297	NM_001145440.3(TYW1B):c.1253T>C (p.Leu418Ser)	TYW1B (L418S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185296	NM_001145440.3(TYW1B):c.11C>T (p.Ser4Phe)	TYW1B (S4F)	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 2657543	NM_001145440.3(TYW1B):c.471C>T (p.Gly157=)	TYW1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611256	NM_001145440.3(TYW1B):c.472G>A (p.Val158Met)	TYW1B (V158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561592	NM_001145440.3(TYW1B):c.272C>T (p.Ala91Val)	TYW1B (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530985	NM_001145440.3(TYW1B):c.395G>T (p.Gly132Val)	TYW1B (G132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459876	NM_001145440.3(TYW1B):c.244A>G (p.Ser82Gly)	TYW1B (S82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405984	NM_001145440.3(TYW1B):c.1702C>A (p.Arg568Ser)	TYW1B (R455S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389675	NM_001145440.3(TYW1B):c.302G>A (p.Ser101Asn)	TYW1B (S101N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375875	NM_001145440.3(TYW1B):c.1363G>A (p.Glu455Lys)	TYW1B (E455K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368299	NM_001145440.3(TYW1B):c.572T>C (p.Ile191Thr)	TYW1B (I191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366916	NM_001145440.3(TYW1B):c.514G>A (p.Val172Ile)	TYW1B (V172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340518	NM_001145440.3(TYW1B):c.899G>A (p.Arg300Lys)	TYW1B (R300K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301677	NM_001145440.3(TYW1B):c.974C>T (p.Pro325Leu)	TYW1B (P325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301253	NM_001145440.3(TYW1B):c.188C>T (p.Ala63Val)	TYW1B (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253618	NM_001145440.3(TYW1B):c.200T>C (p.Leu67Pro)	TYW1B (L67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249312	NM_001145440.3(TYW1B):c.575C>T (p.Ser192Phe)	TYW1B (S192F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231049	NM_001145440.3(TYW1B):c.79G>T (p.Gly27Cys)	TYW1B (G27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224853	NM_001145440.3(TYW1B):c.885C>G (p.Phe295Leu)	TYW1B (F295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224847	NM_001145440.3(TYW1B):c.152T>A (p.Leu51His)	TYW1B (L51H)	Single nucleotide variant (missense variant)	not specified	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 1047864	GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)	ABHD11, ABHD11-AS1 +20 more	Copy number loss	Williams syndrome	GLikely pathogenic
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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 547144	GRCh37/hg19 7q11.22-11.23(chr7:72003013-72315358)x1	TYW1B	Copy number loss	not provided	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441623	GRCh37/hg19 7q11.22(chr7:71267226-72032168)x3	CALN1, TYW1B	Copy number gain	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253635	GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3	CLDN4, POM121 +28 more	Copy number gain	See cases	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
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 155277	GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1	LOC129998580, LOC129998581 +34 more	Copy number loss	See cases	GUncertain significance
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998532, LOC129998533 +350 more	Copy number loss	See cases	GPathogenic
Select item 154379	GRCh38/hg38 7q11.22(chr7:72183970-72630810)x1	CALN1, LOC126860070 +3 more	Copy number loss	See cases	GLikely benign
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	LOC129998632, LOC129998633 +349 more	Copy number gain	See cases	GPathogenic
Select item 150593	GRCh38/hg38 7q11.22-11.23(chr7:72303992-72724792)x1	CALN1, LOC126860070 +6 more	Copy number loss	See cases	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 148118	GRCh38/hg38 7q11.22-11.23(chr7:72576419-72815631)x1	LOC129389813, LOC129998580 +2 more	Copy number loss	See cases	GBenign
Select item 147291	GRCh38/hg38 7q11.22(chr7:72444332-72630810)x3	CALN1, LOC129998579 +1 more	Copy number gain	See cases	GBenign
Select item 147112	GRCh38/hg38 7q11.23(chr7:72724762-72815601)x3	TYW1B	Copy number gain	See cases	GBenign
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 146255	GRCh38/hg38 7q11.22(chr7:72338586-72694928)x1	CALN1, LOC126860070 +4 more	Copy number loss	See cases	GUncertain significance
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 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 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic
Select item 58217	GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	LAT2, LIMK1 +162 more	Copy number gain	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 56