ClinVar for Gene (Select 164284) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306437	NM_153360.3(APCDD1L):c.267G>T (p.Gln89His)	APCDD1L (Q100H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306427	NM_153360.3(APCDD1L):c.1292G>A (p.Arg431Lys)	APCDD1L (R431K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306421	NM_153360.3(APCDD1L):c.178A>G (p.Ile60Val)	APCDD1L (I60V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306418	NM_153360.3(APCDD1L):c.223C>T (p.Arg75Cys)	APCDD1L (R75C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306409	NM_153360.3(APCDD1L):c.1283T>A (p.Ile428Asn)	APCDD1L (I428N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306400	NM_153360.3(APCDD1L):c.997G>A (p.Ala333Thr)	APCDD1L (A344T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306390	NM_153360.3(APCDD1L):c.352G>A (p.Val118Ile)	APCDD1L (V129I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248275	NC_000020.10:g.(?_56993257)_(57967907_?)dup	TUBB1, VAPB +14 more	Duplication	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3127793	NM_153360.3(APCDD1L):c.872T>C (p.Val291Ala)	APCDD1L (V302A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127792	NM_153360.3(APCDD1L):c.782G>A (p.Arg261His)	APCDD1L (R261H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127791	NM_153360.3(APCDD1L):c.748G>T (p.Val250Leu)	APCDD1L (V261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127790	NM_153360.3(APCDD1L):c.748G>A (p.Val250Met)	APCDD1L (V250M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127789	NM_153360.3(APCDD1L):c.434T>G (p.Val145Gly)	APCDD1L (V156G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127788	NM_153360.3(APCDD1L):c.416G>C (p.Arg139Pro)	APCDD1L (R139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127787	NM_153360.3(APCDD1L):c.416G>A (p.Arg139His)	APCDD1L (R139H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127785	NM_153360.3(APCDD1L):c.307T>C (p.Ser103Pro)	APCDD1L (S114P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127784	NM_153360.3(APCDD1L):c.256C>G (p.Arg86Gly)	APCDD1L (R86G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127783	NM_153360.3(APCDD1L):c.247C>T (p.Arg83Trp)	APCDD1L (R94W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127782	NM_153360.3(APCDD1L):c.244A>T (p.Ser82Cys)	APCDD1L (S93C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127781	NM_153360.3(APCDD1L):c.1492C>T (p.Leu498Phe)	APCDD1L (L509F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127780	NM_153360.3(APCDD1L):c.1351C>A (p.Pro451Thr)	APCDD1L (P451T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620343	NM_153360.3(APCDD1L):c.200G>T (p.Arg67Leu)	APCDD1L (R78L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606696	NM_153360.3(APCDD1L):c.491C>T (p.Pro164Leu)	APCDD1L (P175L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606508	NM_153360.3(APCDD1L):c.1262T>C (p.Leu421Pro)	APCDD1L (L421P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594302	NM_153360.3(APCDD1L):c.127G>T (p.Asp43Tyr)	APCDD1L (D43Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2546916	NM_153360.3(APCDD1L):c.1204C>G (p.Leu402Val)	APCDD1L (L413V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543956	NM_153360.3(APCDD1L):c.1147G>A (p.Gly383Arg)	APCDD1L (G383R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519501	NM_153360.3(APCDD1L):c.1141G>C (p.Gly381Arg)	APCDD1L (G381R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511810	NM_153360.3(APCDD1L):c.1202C>T (p.Pro401Leu)	APCDD1L (P412L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509370	NM_153360.3(APCDD1L):c.125C>A (p.Pro42Gln)	APCDD1L (P42Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458134	NM_153360.3(APCDD1L):c.1283T>C (p.Ile428Thr)	APCDD1L (I439T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402163	NM_153360.3(APCDD1L):c.805G>A (p.Val269Met)	APCDD1L (V269M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382902	NM_153360.3(APCDD1L):c.37G>T (p.Val13Leu)	APCDD1L (V13L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2380604	NM_153360.3(APCDD1L):c.1019C>T (p.Thr340Met)	APCDD1L (T340M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368213	NM_153360.3(APCDD1L):c.722G>A (p.Arg241His)	APCDD1L (R241H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365020	NM_153360.3(APCDD1L):c.79G>A (p.Gly27Arg)	APCDD1L (G27R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352477	NM_153360.3(APCDD1L):c.160C>T (p.Arg54Cys)	APCDD1L (R54C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348163	NM_153360.3(APCDD1L):c.95G>A (p.Arg32His)	APCDD1L (R43H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2346055	NM_153360.3(APCDD1L):c.1285G>A (p.Gly429Arg)	APCDD1L (G429R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331491	NM_153360.3(APCDD1L):c.476C>A (p.Ala159Glu)	APCDD1L (A159E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322205	NM_153360.3(APCDD1L):c.164T>C (p.Leu55Pro)	APCDD1L (L55P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317824	NM_153360.3(APCDD1L):c.7G>T (p.Ala3Ser)	APCDD1L (A3S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2292476	NM_153360.3(APCDD1L):c.745C>T (p.His249Tyr)	APCDD1L (H249Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290138	NM_153360.3(APCDD1L):c.323G>T (p.Gly108Val)	APCDD1L (G119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278761	NM_153360.3(APCDD1L):c.736G>T (p.Ala246Ser)	APCDD1L (A257S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262884	NM_153360.3(APCDD1L):c.92T>C (p.Leu31Pro)	APCDD1L (L42P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259142	NM_153360.3(APCDD1L):c.1039G>A (p.Gly347Ser)	APCDD1L (G358S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246270	NM_153360.3(APCDD1L):c.787G>T (p.Asp263Tyr)	APCDD1L (D263Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217715	NM_153360.3(APCDD1L):c.887T>C (p.Leu296Pro)	APCDD1L (L307P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214205	NM_153360.3(APCDD1L):c.422C>T (p.Ala141Val)	APCDD1L (A152V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207650	NM_153360.3(APCDD1L):c.1381G>A (p.Asp461Asn)	APCDD1L (D461N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206475	NM_153360.3(APCDD1L):c.1319C>T (p.Thr440Ile)	APCDD1L (T451I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203795	NM_153360.3(APCDD1L):c.1234G>A (p.Glu412Lys)	APCDD1L (E412K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	SPO11, TUBB1 +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 686249	GRCh37/hg19 20q13.32(chr20:57009165-57100623)x3	APCDD1L, VAPB	Copy number gain	not provided	GUncertain significance
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 72