ClinVar for Gene (Select 8732) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155503	NM_003800.5(RNGTT):c.560C>T (p.Pro187Leu)	RNGTT (P127L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155502	NM_003800.5(RNGTT):c.345A>C (p.Glu115Asp)	RNGTT (E115D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155501	NM_003800.5(RNGTT):c.1748A>G (p.Glu583Gly)	RNGTT (E560G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155500	NM_003800.5(RNGTT):c.1333A>G (p.Thr445Ala)	RNGTT (T445A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	LOC129389578, LOC129996811 +45 more	Copy number gain	Autism spectrum disorder	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 2616627	NM_003800.5(RNGTT):c.1294G>C (p.Glu432Gln)	RNGTT (E432Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535014	NM_003800.5(RNGTT):c.1725A>T (p.Lys575Asn)	RNGTT (K552N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396714	NM_003800.5(RNGTT):c.335G>A (p.Arg112Gln)	RNGTT (R52Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370307	NM_003800.5(RNGTT):c.1228G>A (p.Val410Ile)	RNGTT (V350I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341586	NM_003800.5(RNGTT):c.1726C>T (p.His576Tyr)	RNGTT (H553Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341564	NM_003800.5(RNGTT):c.617G>A (p.Gly206Glu)	RNGTT (G206E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295944	NM_003800.5(RNGTT):c.523C>T (p.Arg175Cys)	RNGTT (R115C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283114	NM_003800.5(RNGTT):c.760C>G (p.Gln254Glu)	RNGTT (Q194E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254944	NM_003800.5(RNGTT):c.167G>T (p.Ser56Ile)	RNGTT (S56I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241557	NM_003800.5(RNGTT):c.1208A>G (p.Lys403Arg)	RNGTT (K343R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 814845	GRCh37/hg19 6q15(chr6:89304572-89650242)x3	RNGTT	Copy number gain	not provided	GLikely benign
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	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 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	AKIRIN2, ANKRD6 +153 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

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Links from Gene

Items: 33