ClinVar for Gene (Select 387748) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206063	NM_001005180.3(OR56B1):c.908A>G (p.Gln303Arg)	OR52N4, OR56B1 (Q303R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206061	NM_001005180.3(OR56B1):c.194A>C (p.Gln65Pro)	OR52N4, OR56B1 (Q65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206060	NM_001005180.3(OR56B1):c.146C>T (p.Ala49Val)	OR52N4, OR56B1 (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206059	NM_001005180.3(OR56B1):c.118C>G (p.Leu40Val)	OR52N4, OR56B1 (L40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622653	NM_001005180.3(OR56B1):c.203T>C (p.Met68Thr)	OR52N4, OR56B1 (M68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612500	NM_001005180.3(OR56B1):c.875C>T (p.Pro292Leu)	OR52N4, OR56B1 (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598914	NM_001005180.3(OR56B1):c.895G>C (p.Val299Leu)	OR52N4, OR56B1 (V299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
Select item 2569745	NM_001005180.3(OR56B1):c.952C>T (p.Leu318Phe)	OR52N4, OR56B1 (L318F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549750	NM_001005180.3(OR56B1):c.521A>G (p.Gln174Arg)	OR52N4, OR56B1 (Q174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536698	NM_001005180.3(OR56B1):c.968G>C (p.Arg323Thr)	OR52N4, OR56B1 (R323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524507	NM_001005180.3(OR56B1):c.223C>T (p.Leu75Phe)	OR52N4, OR56B1 (L75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2465559	NM_001005180.3(OR56B1):c.877C>G (p.Pro293Ala)	OR52N4, OR56B1 (P293A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460519	NM_001005180.3(OR56B1):c.698C>G (p.Ser233Cys)	OR52N4, OR56B1 (S233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457453	NM_001005180.3(OR56B1):c.428C>T (p.Ser143Leu)	OR52N4, OR56B1 (S143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299188	NM_001005180.3(OR56B1):c.158T>C (p.Leu53Pro)	OR52N4, OR56B1 (L53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257963	NM_001005180.3(OR56B1):c.367A>G (p.Ile123Val)	OR52N4, OR56B1 (I123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226908	NM_001005180.3(OR56B1):c.68T>C (p.Leu23Pro)	OR52N4, OR56B1 (L23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214490	NM_001005180.3(OR56B1):c.248C>G (p.Ala83Gly)	OR52N4, OR56B1 (A83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	OR52B2, OR56A5 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980413	GRCh37/hg19 11p15.4(chr11:5642000-5853662)x1	OR52N5, OR56B1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 815404	GRCh37/hg19 11p15.4(chr11:5505304-6199376)x3	TRIM5, OR56B4 +22 more	Copy number gain	not provided	GLikely benign
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 38