SRSF12[gene] - ClinVar

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Items: 31

	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 2208412	NM_080743.5(SRSF12):c.767G>A (p.Arg256His)	PM20D2, SRSF12 (R161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170257	NM_080743.5(SRSF12):c.746A>T (p.His249Leu)	PM20D2, SRSF12 (H249L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559334	NM_080743.5(SRSF12):c.739C>T (p.Arg247Trp)	PM20D2, SRSF12 (R247W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540841	NM_080743.5(SRSF12):c.638A>G (p.His213Arg)	PM20D2, SRSF12 (H118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301000	NM_080743.5(SRSF12):c.602A>G (p.Gln201Arg)	PM20D2, SRSF12 (Q106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323399	NM_080743.5(SRSF12):c.479G>A (p.Arg160Gln)	PM20D2, SRSF12 (R160Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170255	NM_080743.5(SRSF12):c.458G>A (p.Arg153His)	PM20D2, SRSF12 (R153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380822	NM_080743.5(SRSF12):c.425A>C (p.His142Pro)	PM20D2, SRSF12 (H47P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292117	NM_080743.5(SRSF12):c.348C>A (p.Ser116Arg)	PM20D2, SRSF12 (S116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464625	NM_080743.5(SRSF12):c.79C>T (p.Arg27Cys)	PM20D2, SRSF12 (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	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 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)	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 441948	GRCh37/hg19 6q15(chr6:89717153-90408813)x3	ANKRD6, GABRR1 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 31