ClinVar for Gene (Select 138046) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312652	NM_173848.7(RALYL):c.731A>G (p.Glu244Gly)	RALYL (E156G +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312651	NM_173848.7(RALYL):c.677C>T (p.Ala226Val)	RALYL (A138V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312650	NM_173848.7(RALYL):c.659T>C (p.Ile220Thr)	RALYL (I204T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151344	NM_173848.7(RALYL):c.-24+583A>C	RALYL (K3N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151343	NM_173848.7(RALYL):c.868A>T (p.Ile290Leu)	RALYL (I217L +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151342	NM_173848.7(RALYL):c.860T>G (p.Phe287Cys)	RALYL (F286C +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151341	NM_173848.7(RALYL):c.843T>A (p.Asp281Glu)	RALYL (D193E +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151340	NM_173848.7(RALYL):c.758A>C (p.His253Pro)	RALYL (H165P +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151339	NM_173848.7(RALYL):c.107T>C (p.Val36Ala)	RALYL (V67A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063037	GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	ATP6V0D2, CA1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063023	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85172228)x3	CHMP4C, FABP12 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2622773	NM_173848.7(RALYL):c.525G>A (p.Met175Ile)	RALYL (M159I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588551	NM_173848.7(RALYL):c.737G>A (p.Cys246Tyr)	RALYL (C246Y +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543802	NM_173848.7(RALYL):c.379G>T (p.Asp127Tyr)	RALYL (D129Y +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537279	NM_173848.7(RALYL):c.692A>G (p.Gln231Arg)	RALYL (Q215R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532396	NM_173848.7(RALYL):c.431G>T (p.Gly144Val)	RALYL (G60V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524829	NM_173848.7(RALYL):c.599A>G (p.Lys200Arg)	RALYL (K200R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515057	NM_173848.7(RALYL):c.500G>A (p.Arg167His)	RALYL (R151H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514165	NM_173848.7(RALYL):c.646C>T (p.Arg216Cys)	RALYL (R132C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491881	NM_173848.7(RALYL):c.835G>A (p.Asp279Asn)	RALYL (D310N +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474677	NM_173848.7(RALYL):c.312G>C (p.Arg104Ser)	RALYL (R117S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455024	NM_173848.7(RALYL):c.451C>T (p.Arg151Cys)	RALYL (R140C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399996	NM_173848.7(RALYL):c.712A>G (p.Ser238Gly)	RALYL (S154G +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335876	NM_173848.7(RALYL):c.647G>T (p.Arg216Leu)	RALYL (R200L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273004	NM_173848.7(RALYL):c.442C>G (p.Pro148Ala)	RALYL (P150A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269130	NM_173848.7(RALYL):c.452G>A (p.Arg151His)	RALYL (R164H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234871	NM_173848.7(RALYL):c.535T>A (p.Ser179Thr)	RALYL (S106T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809213	GRCh37/hg19 8q21.13-21.2(chr8:83705217-86441492)x1	CA1, CA13 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 1340788	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85173253)x3	CHMP4C, FABP12 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815141	GRCh37/hg19 8q21.2(chr8:85635587-86553130)x3	CA3, CA1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815140	GRCh37/hg19 8q21.13-21.2(chr8:83541683-86091081)x3	RALYL, E2F5 +1 more	Copy number gain	not provided	GLikely benign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687123	GRCh37/hg19 8q21.13-21.2(chr8:82196649-85352499)x1	CHMP4C, FABP12 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687018	GRCh37/hg19 8q21.13-21.2(chr8:83541047-86097857)x3	E2F5, LRRCC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685054	GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1	ATP6V0D2, CA1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 624533	GRCh37/hg19 8q21.13-21.2(chr8:84020681-85414218)x3	RALYL	Copy number gain	not provided	GLikely benign
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 147729	GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1	CA1, CA13 +25 more	Copy number loss	See cases	GUncertain significance
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67