51596[Gene ID] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 152279	GRCh38/hg38 6p21.32(chr6:33415354-33432929)x3	CUTA, PHF1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 3270342	NM_001014840.2(CUTA):c.493C>T (p.Arg165Cys)	CUTA (R142C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546473	NM_001014840.2(CUTA):c.476C>T (p.Pro159Leu)	CUTA (P159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338273	NM_001014840.2(CUTA):c.467G>A (p.Gly156Glu)	CUTA (G156E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079029	NM_001014840.2(CUTA):c.415T>C (p.Ser139Pro)	CUTA (S139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391622	NM_001014840.2(CUTA):c.412C>T (p.Arg138Cys)	CUTA (R138C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362287	NM_001014840.2(CUTA):c.401C>G (p.Thr134Arg)	CUTA (T111R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399674	NM_001014840.2(CUTA):c.293A>T (p.Asn98Ile)	CUTA (N75I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511428	NM_001014840.2(CUTA):c.258G>A (p.Arg86=)	CUTA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2366368	NM_001014840.2(CUTA):c.217G>C (p.Val73Leu)	CUTA (V50L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322543	NM_001014840.2(CUTA):c.217G>A (p.Val73Ile)	CUTA (V50I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679633	NM_001014840.2(CUTA):c.202G>A (p.Val68Ile)	CUTA (V45I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2208044	NM_001014840.2(CUTA):c.161C>G (p.Ser54Trp)	CUTA (S31W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270343	NM_001014840.2(CUTA):c.148C>T (p.Pro50Ser)	CUTA (P27S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079028	NM_001014433.2(CUTA):c.37G>C (p.Gly13Arg)	CUTA (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394701	NM_001014433.2(CUTA):c.29G>A (p.Gly10Glu)	CUTA (G10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079031	NM_001014433.2(CUTA):c.4A>T (p.Ile2Leu)	CUTA, SYNGAP1 (I2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 832257	NC_000006.12:g.(?_33391986)_(33672228_?)dup	BAK1, CUTA +5 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221456	GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3	KIFC1, CUTA +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 30