ClinVar for Gene (Select 401190) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314136	NM_001029875.3(RGS7BP):c.517G>A (p.Ala173Thr)	RGS7BP (A173T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 2606629	NM_001029875.3(RGS7BP):c.513G>C (p.Glu171Asp)	RGS7BP (E171D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536338	NM_001029875.3(RGS7BP):c.87G>C (p.Gln29His)	RGS7BP (Q29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491351	NM_001029875.3(RGS7BP):c.39C>G (p.Ser13Arg)	RGS7BP (S13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485955	NM_001029875.3(RGS7BP):c.472C>A (p.Pro158Thr)	RGS7BP (P158T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482963	NM_001029875.3(RGS7BP):c.104G>T (p.Arg35Leu)	RGS7BP (R35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338172	NM_001029875.3(RGS7BP):c.145G>A (p.Ala49Thr)	RGS7BP (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295337	NM_001029875.3(RGS7BP):c.49C>A (p.Arg17Ser)	RGS7BP (R17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234213	NM_001029875.3(RGS7BP):c.203G>A (p.Arg68Gln)	RGS7BP (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1456117	NC_000005.9:g.(?_63256278)_(65374358_?)del	ADAMTS6, CENPK +12 more	Deletion	not provided	GPathogenic
Select item 1340963	GRCh37/hg19 5q12.3(chr5:63728460-63853032)x1	RGS7BP	Copy number loss	not provided	GUncertain significance
Select item 979680	GRCh37/hg19 5q12.3(chr5:63827760-64499916)x3	ADAMTS6, RGS7BP +3 more	Copy number gain	not provided	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
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 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
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 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 21