Related gene-specific medical variations for Gene (Select 54928) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261401	NM_017813.5(BPNT2):c.109A>G (p.Ser37Gly)	BPNT2, LOC130000433 (S37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134877	NM_017813.5(BPNT2):c.133C>T (p.Pro45Ser)	BPNT2, LOC130000433 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068283	NM_017813.5(BPNT2):c.1007T>C (p.Leu336Pro)	BPNT2 (L336P)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely pathogenic
Select item 3065170	NM_017813.5(BPNT2):c.1001G>A (p.Gly334Glu)	BPNT2 (G334E)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 3064488	NM_017813.5(BPNT2):c.713_714insCTTCCTATGG (p.Arg238fs)	BPNT2 (R238fs)	Insertion (frameshift variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely pathogenic
Select item 3057876	NM_017813.5(BPNT2):c.141C>G (p.Gly47=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	BPNT2-related disorder	GLikely benign
Select item 3053807	NM_017813.5(BPNT2):c.153G>C (p.Gly51=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	BPNT2-related disorder	GLikely benign
Select item 3047685	NM_017813.5(BPNT2):c.-4C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	BPNT2-related disorder	GLikely benign
Select item 2969620	NM_017813.5(BPNT2):c.102C>A (p.Gly34=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504979	NM_017813.5(BPNT2):c.43G>C (p.Val15Leu)	BPNT2, LOC130000433 (V15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486165	NM_017813.5(BPNT2):c.127G>T (p.Gly43Cys)	BPNT2, LOC130000433 (G43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2419622	NM_017813.5(BPNT2):c.84C>T (p.Tyr28=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188633	NM_017813.5(BPNT2):c.78C>T (p.His26=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182089	NM_017813.5(BPNT2):c.118_130dup (p.Glu44fs)	BPNT2, LOC130000433 (E44fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2178009	NM_017813.5(BPNT2):c.112C>G (p.Leu38Val)	BPNT2, LOC130000433 (L38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041121	NM_017813.5(BPNT2):c.8C>T (p.Pro3Leu)	BPNT2, LOC130000433 (P3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940752	NM_017813.5(BPNT2):c.154C>T (p.Pro52Ser)	BPNT2, LOC130000433 (P52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681113	NM_017813.5(BPNT2):c.6C>T (p.Ala2=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681112	NM_017813.5(BPNT2):c.31C>G (p.Leu11Val)	BPNT2, LOC130000433 (L11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681111	NM_017813.5(BPNT2):c.49T>G (p.Cys17Gly)	BPNT2, LOC130000433 (C17G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681110	NM_017813.5(BPNT2):c.120C>T (p.Gly40=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681109	NM_017813.5(BPNT2):c.152G>A (p.Gly51Glu)	BPNT2, LOC130000433 (G51E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681108	NM_017813.5(BPNT2):c.153G>A (p.Gly51=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527432	GRCh37/hg19 8q12.1(chr8:57492825-58104912)	BPNT2	Copy number gain	not specified	GUncertain significance
Select item 1053543	NM_017813.5(BPNT2):c.5C>A (p.Ala2Asp)	BPNT2, LOC130000433 (A2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001362	NM_017813.5(BPNT2):c.118G>A (p.Gly40Ser)	BPNT2, LOC130000433 (G40S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911600	NM_017813.5(BPNT2):c.-131C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911599	NM_017813.5(BPNT2):c.-16C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911598	NM_017813.5(BPNT2):c.21C>T (p.Arg7=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 911597	NM_017813.5(BPNT2):c.138C>T (p.Gly46=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 686975	GRCh37/hg19 8q12.1(chr8:57699846-58315215)x1	BPNT2	Copy number loss	not provided	GUncertain significance
Select item 363417	NM_017813.5(BPNT2):c.-279T>C	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363416	NM_017813.5(BPNT2):c.-274G>C	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363415	NM_017813.5(BPNT2):c.-252G>C	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 363414	NM_017813.5(BPNT2):c.-169C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GBenign
Select item 363413	NM_017813.5(BPNT2):c.-155C>G	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 363412	NM_017813.5(BPNT2):c.-146A>C	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia with joint dislocations, gPAPP type +1 more	GLikely benign
Select item 363411	NM_017813.5(BPNT2):c.-125C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 363410	NM_017813.5(BPNT2):c.-69CGG[7]	BPNT2, LOC130000433	Microsatellite (5 prime UTR variant)	Chondrodysplasia	GUncertain significance

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Links from Gene

Items: 39