19155[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 155202	GRCh38/hg38 1p34.3(chr1:38490485-39548775)x1	AKIRIN1, BMP8A +53 more	Copy number loss	See cases	GLikely benign
Select item 3099962	NM_030772.5(GJA9):c.1540C>G (p.Gln514Glu)	GJA9, GJA9-MYCBP +1 more (Q514E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2473307	NM_030772.5(GJA9):c.1513A>C (p.Ile505Leu)	GJA9, GJA9-MYCBP +1 more (I505L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2251832	NM_030772.5(GJA9):c.1502C>T (p.Thr501Met)	GJA9, GJA9-MYCBP +1 more (T501M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 772681	NM_030772.5(GJA9):c.1390T>C (p.Ser464Pro)	GJA9, GJA9-MYCBP +1 more (S464P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 783284	NM_030772.5(GJA9):c.1352C>T (p.Thr451Ile)	GJA9, GJA9-MYCBP +1 more (T451I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3099961	NM_030772.5(GJA9):c.1348G>A (p.Gly450Ser)	GJA9, GJA9-MYCBP +1 more (G450S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3099960	NM_030772.5(GJA9):c.1246G>C (p.Asp416His)	GJA9, GJA9-MYCBP +1 more (D416H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 751001	NM_030772.5(GJA9):c.1167T>C (p.Ser389=)	GJA9, GJA9-MYCBP +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2371266	NM_030772.5(GJA9):c.1163G>A (p.Arg388His)	GJA9, GJA9-MYCBP +1 more (R388H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392050	NM_030772.5(GJA9):c.1128A>C (p.Lys376Asn)	GJA9, GJA9-MYCBP +1 more (K376N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345875	NM_030772.5(GJA9):c.1010G>A (p.Ser337Asn)	GJA9, GJA9-MYCBP +1 more (S337N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2386032	NM_030772.5(GJA9):c.976G>C (p.Glu326Gln)	GJA9, GJA9-MYCBP +1 more (E326Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2558365	NM_030772.5(GJA9):c.942T>A (p.Ser314Arg)	GJA9, GJA9-MYCBP +1 more (S314R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2216612	NM_030772.5(GJA9):c.941G>C (p.Ser314Thr)	GJA9, GJA9-MYCBP +1 more (S314T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3099969	NM_030772.5(GJA9):c.926A>C (p.Asn309Thr)	GJA9, GJA9-MYCBP +1 more (N309T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3099968	NM_030772.5(GJA9):c.889T>A (p.Tyr297Asn)	GJA9, GJA9-MYCBP +1 more (Y297N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2610478	NM_030772.5(GJA9):c.862G>C (p.Val288Leu)	GJA9, GJA9-MYCBP +1 more (V288L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3099967	NM_030772.5(GJA9):c.770C>T (p.Ala257Val)	GJA9, GJA9-MYCBP +1 more (A257V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2542867	NM_030772.5(GJA9):c.765C>A (p.Phe255Leu)	GJA9, GJA9-MYCBP +1 more (F255L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3281449	NM_030772.5(GJA9):c.722G>A (p.Gly241Glu)	GJA9, GJA9-MYCBP +1 more (G241E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2606937	NM_030772.5(GJA9):c.595G>A (p.Asp199Asn)	GJA9, GJA9-MYCBP +1 more (D199N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2261764	NM_030772.5(GJA9):c.593T>C (p.Ile198Thr)	GJA9, GJA9-MYCBP +1 more (I198T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3099965	NM_030772.5(GJA9):c.589A>G (p.Ile197Val)	GJA9, GJA9-MYCBP +1 more (I197V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2602781	NM_030772.5(GJA9):c.568C>A (p.His190Asn)	GJA9, GJA9-MYCBP +1 more (H190N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3281450	NM_030772.5(GJA9):c.467C>G (p.Thr156Ser)	GJA9, GJA9-MYCBP +1 more (T156S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2613076	NM_030772.5(GJA9):c.390G>T (p.Arg130Ser)	GJA9, GJA9-MYCBP +1 more (R130S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3281451	NM_030772.5(GJA9):c.362T>C (p.Val121Ala)	GJA9, GJA9-MYCBP +1 more (V121A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2252304	NM_030772.5(GJA9):c.236T>G (p.Val79Gly)	GJA9, GJA9-MYCBP +1 more (V79G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2473796	NM_030772.5(GJA9):c.224T>A (p.Ile75Asn)	GJA9, GJA9-MYCBP +1 more (I75N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2221878	NM_030772.5(GJA9):c.206C>A (p.Ala69Asp)	GJA9, GJA9-MYCBP +1 more (A69D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3099963	NM_030772.5(GJA9):c.194G>A (p.Cys65Tyr)	GJA9, GJA9-MYCBP +1 more (C65Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3281447	NM_030772.5(GJA9):c.156C>A (p.Phe52Leu)	GJA9, GJA9-MYCBP +1 more (F52L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384235	NM_030772.5(GJA9):c.93A>G (p.Ile31Met)	GJA9, GJA9-MYCBP +1 more (I31M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3099966	NM_030772.5(GJA9):c.5G>A (p.Gly2Glu)	GJA9, GJA9-MYCBP +1 more (G2E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 565086	GRCh37/hg19 1p34.3(chr1:39094582-39794108)x3	AKIRIN1, RHBDL2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 46