5046[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 2588557	NM_005968.5(HNRNPM):c.23C>T (p.Ala8Val)	HNRNPM (A8V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2553594	NM_005968.5(HNRNPM):c.31G>A (p.Val11Met)	HNRNPM (V11M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2531197	NM_005968.5(HNRNPM):c.41C>A (p.Thr14Lys)	HNRNPM (T14K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2620425	NM_005968.5(HNRNPM):c.59A>C (p.Glu20Ala)	HNRNPM (E20A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 207931	NM_005968.5(HNRNPM):c.76G>A (p.Gly26Ser)	HNRNPM (G26S)	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome	GLikely benign
Select item 2481428	NM_005968.5(HNRNPM):c.106C>T (p.Pro36Ser)	HNRNPM (P36S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2322144	NM_005968.5(HNRNPM):c.128C>T (p.Pro43Leu)	HNRNPM (P43L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106430	NM_005968.5(HNRNPM):c.176A>G (p.Asn59Ser)	HNRNPM (N59S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106433	NM_005968.5(HNRNPM):c.377A>G (p.Lys126Arg)	HNRNPM (K6R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106434	NM_005968.5(HNRNPM):c.453A>T (p.Glu151Asp)	HNRNPM (E151D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386813	NM_005968.5(HNRNPM):c.500T>C (p.Met167Thr)	HNRNPM (M47T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408417	NM_005968.5(HNRNPM):c.541C>T (p.Pro181Ser)	HNRNPM (P181S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106435	NM_005968.5(HNRNPM):c.563A>G (p.Asn188Ser)	HNRNPM (N68S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284578	NM_005968.5(HNRNPM):c.787A>G (p.Met263Val)	HNRNPM (M263V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727869	NM_005968.5(HNRNPM):c.835-7C>G	HNRNPM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3106436	NM_005968.5(HNRNPM):c.878G>T (p.Arg293Leu)	HNRNPM (R173L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614317	NM_005968.5(HNRNPM):c.978G>C (p.Met326Ile)	HNRNPM (M206I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789662	NM_005968.5(HNRNPM):c.1053G>A (p.Gly351=)	HNRNPM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106426	NM_005968.5(HNRNPM):c.1262C>T (p.Ala421Val)	HNRNPM (A382V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106427	NM_005968.5(HNRNPM):c.1288G>A (p.Val430Met)	HNRNPM (V391M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310781	NM_005968.5(HNRNPM):c.1340T>C (p.Val447Ala)	HNRNPM (V312A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106428	NM_005968.5(HNRNPM):c.1346G>T (p.Arg449Leu)	HNRNPM (R314L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324780	NM_005968.5(HNRNPM):c.1391A>G (p.His464Arg)	HNRNPM (H425R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618263	NM_005968.5(HNRNPM):c.1394T>C (p.Met465Thr)	HNRNPM (M426T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284575	NM_005968.5(HNRNPM):c.1444G>A (p.Gly482Ser)	HNRNPM (G347S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106429	NM_005968.5(HNRNPM):c.1456A>G (p.Met486Val)	HNRNPM (M447V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316387	NM_005968.5(HNRNPM):c.1489A>G (p.Met497Val)	HNRNPM (M362V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284579	NM_005968.5(HNRNPM):c.1495G>A (p.Ala499Thr)	HNRNPM (A499T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487090	NM_005968.5(HNRNPM):c.1522A>C (p.Ile508Leu)	HNRNPM (I373L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464788	NM_005968.5(HNRNPM):c.1543G>A (p.Val515Met)	HNRNPM (V380M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513308	NM_005968.5(HNRNPM):c.1603G>A (p.Ala535Thr)	HNRNPM (A400T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768964	NM_005968.5(HNRNPM):c.1659C>T (p.Thr553=)	HNRNPM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374735	NM_005968.5(HNRNPM):c.1672A>G (p.Met558Val)	HNRNPM (M558V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284576	NM_005968.5(HNRNPM):c.1678G>A (p.Ala560Thr)	HNRNPM (A521T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106431	NM_005968.5(HNRNPM):c.1789G>T (p.Gly597Cys)	HNRNPM (G462C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788016	NM_005968.5(HNRNPM):c.1803C>T (p.Gly601=)	HNRNPM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2621714	NM_005968.5(HNRNPM):c.1814A>G (p.Glu605Gly)	HNRNPM (E470G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600004	NM_005968.5(HNRNPM):c.1846G>A (p.Gly616Ser)	HNRNPM (G481S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460342	NM_005968.5(HNRNPM):c.1849G>A (p.Ala617Thr)	HNRNPM (A482T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284577	NM_005968.5(HNRNPM):c.1859A>C (p.Asp620Ala)	HNRNPM (D581A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624215	NM_005968.5(HNRNPM):c.1870G>A (p.Glu624Lys)	HNRNPM (E624K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754952	NM_005968.5(HNRNPM):c.2115C>A (p.Ala705=)	HNRNPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100852	NM_005968.5(HNRNPM):c.2129G>A (p.Arg710Gln)	HNRNPM (R710Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394613	GRCh37/hg19 19p13.2(chr19:8535894-8576213)x3	HNRNPM, PRAM1 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 52