ClinVar for Gene (Select 54763) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155704	NM_001317774.2(ROPN1):c.619C>T (p.Pro207Ser)	ROPN1 (P207S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155703	NM_001317774.2(ROPN1):c.560T>C (p.Met187Thr)	ROPN1 (M95T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155702	NM_001317774.2(ROPN1):c.464G>C (p.Arg155Pro)	ROPN1 (R155P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622274	NM_001317774.2(ROPN1):c.49A>G (p.Met17Val)	ROPN1 (M17V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606963	NM_001317774.2(ROPN1):c.164G>C (p.Arg55Pro)	ROPN1 (R55P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2551876	NM_001317774.2(ROPN1):c.14A>T (p.Asp5Val)	ROPN1 (D5V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546698	NM_001317774.2(ROPN1):c.35C>T (p.Pro12Leu)	ROPN1 (P12L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522694	NM_001317774.2(ROPN1):c.464G>A (p.Arg155Gln)	ROPN1 (R155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517207	NM_001317774.2(ROPN1):c.152C>T (p.Pro51Leu)	ROPN1 (P51L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510128	NM_001317774.2(ROPN1):c.110C>G (p.Ala37Gly)	ROPN1 (A37G)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2340290	NM_001317774.2(ROPN1):c.199C>G (p.Leu67Val)	ROPN1 (L67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295828	NM_001317774.2(ROPN1):c.28A>G (p.Ile10Val)	ROPN1 (I10V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284428	NM_001317774.2(ROPN1):c.578G>T (p.Gly193Val)	ROPN1 (G101V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269934	NM_001317774.2(ROPN1):c.14A>C (p.Asp5Ala)	ROPN1 (D5A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268032	NM_001317774.2(ROPN1):c.352G>A (p.Glu118Lys)	ROPN1 (E118K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1340702	GRCh37/hg19 3q21.1-21.2(chr3:123426881-124387174)x1	CCDC14, KALRN +2 more	Copy number loss	not provided	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 980053	GRCh37/hg19 3q21.1-21.2(chr3:123442360-123837654)x3	KALRN, ROPN1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814476	GRCh37/hg19 3q21.1(chr3:122981355-123768908)x1	CCDC14, HACD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 784019	NM_001317774.2(ROPN1):c.186T>G (p.Cys62Trp)	ROPN1 (C62W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775900	NM_001317774.2(ROPN1):c.609T>C (p.Phe203=)	ROPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394543	GRCh37/hg19 3q21.1(chr3:123477546-123688038)x1	CCDC14, MYLK +1 more	Copy number loss	See cases	GLikely pathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 39