RRAGD[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	ANKRD6, GABRR1 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153743	GRCh38/hg38 6q15(chr6:89007799-89705596)x3	ANKRD6, GABRR1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 153749	GRCh38/hg38 6q15(chr6:89339079-92096042)x3	ANKRD6, BACH2 +60 more	Copy number gain	See cases	GUncertain significance
Select item 2597732	NM_021244.5(RRAGD):c.1137G>C (p.Lys379Asn)	LOC129996825, RRAGD (K379N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311083	NM_021244.5(RRAGD):c.746A>T (p.Asn249Ile)	RRAGD (N249I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372172	NM_021244.5(RRAGD):c.644+2T>C	RRAGD	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2560010	NM_021244.5(RRAGD):c.542T>C (p.Val181Ala)	RRAGD (V181A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337527	NM_021244.5(RRAGD):c.433A>C (p.Ile145Leu)	RRAGD (I145L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3315387	NM_021244.5(RRAGD):c.392A>G (p.Tyr131Cys)	RRAGD (Y131C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802635	NM_021244.5(RRAGD):c.356C>T (p.Pro119Leu)	LOC129996828, RRAGD	Single nucleotide variant (missense variant)	HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY	GPathogenic
Select item 1335637	NM_021244.5(RRAGD):c.356C>G (p.Pro119Arg)	LOC129996828, RRAGD (P119R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2692333	NM_021244.5(RRAGD):c.299T>G (p.Ile100Arg)	LOC129996828, RRAGD (I100R)	Single nucleotide variant (missense variant)	Hypomagnesemia 7, renal, with or without dilated cardiomyopathy	GLikely pathogenic
Select item 1802637	NM_021244.5(RRAGD):c.289A>C (p.Thr97Pro)	RRAGD	Single nucleotide variant (missense variant)	HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY	GPathogenic
Select item 2251295	NM_021244.5(RRAGD):c.287G>A (p.Ser96Asn)	RRAGD (S96N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802636	NM_021244.5(RRAGD):c.227C>G (p.Ser76Trp)	RRAGD	Single nucleotide variant (missense variant)	HYPOMAGNESEMIA 7, RENAL, WITHOUT DILATED CARDIOMYOPATHY	GPathogenic
Select item 1802633	NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu)	RRAGD	Single nucleotide variant (missense variant)	RRAGD-related disorder +1 more	GPathogenic
Select item 2620981	NM_021244.5(RRAGD):c.133G>T (p.Gly45Cys)	LOC129996831, RRAGD (G45C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334036	NM_021244.5(RRAGD):c.107A>G (p.Asp36Gly)	LOC129996831, RRAGD (D36G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412479	NM_021244.5(RRAGD):c.101G>T (p.Gly34Val)	LOC129996831, RRAGD (G34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471833	NM_021244.5(RRAGD):c.83T>C (p.Leu28Pro)	LOC129996831, RRAGD (L28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485620	NM_021244.5(RRAGD):c.69T>G (p.Asp23Glu)	LOC129996831, RRAGD (D23E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350828	NM_021244.5(RRAGD):c.37G>A (p.Glu13Lys)	LOC129996831, RRAGD (E13K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527264	GRCh37/hg19 6q15(chr6:89720586-90415315)	ANKRD6, GABRR1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340233	GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1	ANKRD6, BACH2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 980215	GRCh37/hg19 6q15(chr6:90085893-90910484)x3	ANKRD6, BACH2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814846	GRCh37/hg19 6q15(chr6:90108876-90806063)x3	RRAGD, MDN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 689259	GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3	ANKRD6, BACH2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442688	GRCh37/hg19 6q15-16.1(chr6:89941373-95634177)x3	ANKRD6, BACH2 +9 more	Copy number gain	See cases	GLikely benign
Select item 441948	GRCh37/hg19 6q15(chr6:89717153-90408813)x3	ANKRD6, GABRR1 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 44