ClinVar for Gene (Select 662) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261282	NM_001205.3(BNIP1):c.188A>C (p.Gln63Pro)	BNIP1 (Q106P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261281	NM_001205.3(BNIP1):c.173T>C (p.Ile58Thr)	BNIP1 (I58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261280	NM_001205.3(BNIP1):c.668G>A (p.Arg223Gln)	BNIP1 (R223Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261279	NM_001205.3(BNIP1):c.563G>A (p.Arg188Gln)	BNIP1 (R154Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246360	NC_000005.9:g.(?_171765373)_(172662086_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 3134668	NM_001205.3(BNIP1):c.562C>T (p.Arg188Trp)	BNIP1 (R231W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134667	NM_001205.3(BNIP1):c.64G>A (p.Glu22Lys)	BNIP1 (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134666	NM_001205.3(BNIP1):c.271A>C (p.Asn91His)	BNIP1 (N134H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134665	NM_001205.3(BNIP1):c.17A>G (p.Asp6Gly)	BNIP1 (D6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2425102	NC_000005.9:g.(?_172089144)_(172774583_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2423474	NC_000005.9:g.(?_171765373)_(172939426_?)dup	ATP6V0E1, BNIP1 +9 more	Duplication	not provided	GUncertain significance
Select item 2399095	NM_001205.3(BNIP1):c.587G>A (p.Arg196His)	BNIP1 (R205H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2385865	NM_001205.3(BNIP1):c.178-2669C>A	BNIP1 (Q89K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381557	NM_001205.3(BNIP1):c.164G>A (p.Arg55His)	BNIP1 (R55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379020	NM_001205.3(BNIP1):c.545G>T (p.Gly182Val)	BNIP1 (G191V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355700	NM_001205.3(BNIP1):c.41A>C (p.Gln14Pro)	BNIP1 (Q14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333539	NM_001205.3(BNIP1):c.616T>C (p.Phe206Leu)	BNIP1 (F206L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331576	NM_001205.3(BNIP1):c.256A>C (p.Lys86Gln)	BNIP1 (K129Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324913	NM_001205.3(BNIP1):c.458T>C (p.Val153Ala)	BNIP1 (V119A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321058	NM_001205.3(BNIP1):c.559G>A (p.Gly187Ser)	BNIP1 (G187S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262669	NM_001205.3(BNIP1):c.178-2750C>T	BNIP1 (L62F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234271	NM_001205.3(BNIP1):c.407G>A (p.Ser136Asn)	BNIP1 (S145N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 1013617	NM_001205.3(BNIP1):c.84+3A>T	BNIP1	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42