34427[HGNC] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
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 144866	GRCh38/hg38 3q11.2(chr3:97602099-97893838)x3	ARL6, CRYBG3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 431739	GRCh38/hg38 3q11.2(chr3:97779512-97864516)	ARL6, CRYBG3 +1 more	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 2653992	NM_153605.4(CRYBG3):c.1950A>G (p.Leu650=)	CRYBG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653993	NM_153605.4(CRYBG3):c.3312C>T (p.Tyr1104=)	CRYBG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769275	NM_153605.4(CRYBG3):c.4223G>A (p.Gly1408Glu)	CRYBG3 (G1408E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782429	NM_153605.4(CRYBG3):c.4295C>T (p.Ser1432Leu)	CRYBG3 (S1432L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2653994	NM_153605.4(CRYBG3):c.4467T>C (p.Pro1489=)	CRYBG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782430	NM_153605.4(CRYBG3):c.4984C>A (p.Pro1662Thr)	CRYBG3 (P1662T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2653995	NM_153605.4(CRYBG3):c.5247C>T (p.Asp1749=)	CRYBG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769276	NM_153605.4(CRYBG3):c.5341G>A (p.Val1781Met)	CRYBG3 (V1781M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2653996	NM_153605.4(CRYBG3):c.6841G>A (p.Glu2281Lys)	CRYBG3 (E2281K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 743355	NM_153605.4(CRYBG3):c.7139A>G (p.Lys2380Arg)	CRYBG3 (K2380R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653997	NM_153605.4(CRYBG3):c.7263T>C (p.Ser2421=)	CRYBG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3148905	GRCh37/hg19 3q11.2(chr3:96308168-98033912)x1	GABRR3, ARL6 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 2685087	GRCh37/hg19 3q11.2(chr3:97542156-98076080)x1	CRYBG3, GABRR3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1809463	GRCh37/hg19 3q11.2(chr3:97283117-98218677)x3	ARL6, CRYBG3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1808444	GRCh37/hg19 3q11.2(chr3:97377527-97805568)x3	ARL6, CRYBG3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340049	GRCh37/hg19 3q11.2(chr3:97488129-97619980)x1	ARL6, CRYBG3	Copy number loss	not provided	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814466	GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)x3	OR5H2, OR5H6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 814464	GRCh37/hg19 3q11.2(chr3:96850456-97974150)x3	GABRR3, OR5H1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 686969	GRCh37/hg19 3q11.2(chr3:97202610-97613231)x3	ARL6, CRYBG3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686889	GRCh37/hg19 3q11.2(chr3:97202610-97619980)x3	ARL6, CRYBG3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443897	GRCh37/hg19 3q11.2(chr3:97650137-98174233)x3	CRYBG3, GABRR3 +9 more	Copy number gain	See cases	GUncertain significance
Select item 442412	GRCh37/hg19 3q11.2(chr3:96579273-98216225)x3	ARL6, CRYBG3 +12 more	Copy number gain	See cases	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 394830	GRCh37/hg19 3q11.2(chr3:97631081-97736465)x1	CRYBG3, GABRR3 +1 more	Copy number loss	See cases	GUncertain significance

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Items: 36