339[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 149390	GRCh38/hg38 11q12.1(chr11:57047366-57372313)x3	LOC130005701, LOC130005702 +15 more	Copy number gain	See cases	GLikely benign
Select item 3306667	NM_005161.6(APLNR):c.989G>C (p.Arg330Thr)	APLNR (R330T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 760747	NM_005161.6(APLNR):c.972C>T (p.Leu324=)	APLNR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3306621	NM_005161.6(APLNR):c.940C>A (p.Pro314Thr)	APLNR (P314T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258789	NM_005161.6(APLNR):c.922C>G (p.Leu308Val)	APLNR (L308V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785348	NM_005161.6(APLNR):c.898G>A (p.Val300Ile)	APLNR (V300I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2360919	NM_005161.6(APLNR):c.884C>A (p.Thr295Asn)	APLNR (T295N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306657	NM_005161.6(APLNR):c.829C>G (p.Leu277Val)	APLNR (L277V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252676	NM_005161.6(APLNR):c.811T>G (p.Tyr271Asp)	APLNR (Y271D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306639	NM_005161.6(APLNR):c.772G>T (p.Ala258Ser)	APLNR (A258S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127848	NM_005161.6(APLNR):c.730C>T (p.Arg244Cys)	APLNR (R244C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127847	NM_005161.6(APLNR):c.721C>T (p.Arg241Trp)	APLNR (R241W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127846	NM_005161.6(APLNR):c.697C>T (p.Arg233Cys)	APLNR (R233C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306628	NM_005161.6(APLNR):c.682A>G (p.Ile228Val)	APLNR (I228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127845	NM_005161.6(APLNR):c.669C>A (p.Phe223Leu)	APLNR (F223L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531004	NM_005161.6(APLNR):c.631G>T (p.Val211Leu)	APLNR (V211L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612845	NM_005161.6(APLNR):c.622G>T (p.Val208Leu)	APLNR (V208L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127844	NM_005161.6(APLNR):c.611C>T (p.Ser204Leu)	APLNR (S204L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474482	NM_005161.6(APLNR):c.540G>T (p.Gln180His)	APLNR (Q180H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406523	NM_005161.6(APLNR):c.530C>T (p.Thr177Ile)	APLNR (T177I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127843	NM_005161.6(APLNR):c.511G>A (p.Gly171Arg)	APLNR (G171R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127842	NM_005161.6(APLNR):c.452C>A (p.Ala151Glu)	APLNR (A151E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306646	NM_005161.6(APLNR):c.449C>T (p.Thr150Met)	APLNR (T150M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588667	NM_005161.6(APLNR):c.442G>A (p.Val148Met)	APLNR (V148M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204570	NM_005161.6(APLNR):c.428G>A (p.Arg143Gln)	APLNR (R143Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321173	NM_005161.6(APLNR):c.358C>A (p.Leu120Ile)	APLNR (L120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467861	NM_005161.6(APLNR):c.349G>A (p.Val117Ile)	APLNR (V117I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127841	NM_005161.6(APLNR):c.343G>A (p.Ala115Thr)	APLNR (A115T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235522	NM_005161.6(APLNR):c.332T>C (p.Val111Ala)	APLNR (V111A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527602	NM_005161.6(APLNR):c.331G>A (p.Val111Ile)	APLNR (V111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521129	NM_005161.6(APLNR):c.271C>T (p.Arg91Trp)	APLNR (R91W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398595	NM_005161.6(APLNR):c.242C>T (p.Thr81Met)	APLNR (T81M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127839	NM_005161.6(APLNR):c.235G>A (p.Val79Met)	APLNR (V79M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731441	NM_005161.6(APLNR):c.157G>A (p.Val53Met)	APLNR (V53M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 731279	NM_005161.6(APLNR):c.81G>A (p.Ser27=)	APLNR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 47