100132916[Gene ID] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152782	GRCh38/hg38 5q12.3(chr5:64636054-64813311)x3	CWC27, LOC121725205 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3161777	NM_001164442.2(SHISAL2B):c.11C>A (p.Ala4Asp)	SHISAL2B (A4D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462152	NM_001164442.2(SHISAL2B):c.35A>G (p.Tyr12Cys)	SHISAL2B (Y12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528967	NM_001164442.2(SHISAL2B):c.41T>A (p.Leu14His)	SHISAL2B (L14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616168	NM_001164442.2(SHISAL2B):c.106T>C (p.Cys36Arg)	SHISAL2B (C36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161776	NM_001164442.2(SHISAL2B):c.107G>A (p.Cys36Tyr)	SHISAL2B (C36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318317	NM_001164442.2(SHISAL2B):c.124C>A (p.Leu42Ile)	SHISAL2B (L42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161778	NM_001164442.2(SHISAL2B):c.164A>G (p.Tyr55Cys)	SHISAL2B (Y55C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606032	NM_001164442.2(SHISAL2B):c.175T>C (p.Tyr59His)	SHISAL2B (Y59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513351	NM_001164442.2(SHISAL2B):c.179T>A (p.Met60Lys)	SHISAL2B (M60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161779	NM_001164442.2(SHISAL2B):c.192C>G (p.Ser64Arg)	SHISAL2B (S64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161780	NM_001164442.2(SHISAL2B):c.209G>C (p.Gly70Ala)	SHISAL2B (G70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531404	NM_001164442.2(SHISAL2B):c.238G>T (p.Ala80Ser)	SHISAL2B (A80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161781	NM_001164442.2(SHISAL2B):c.296G>A (p.Arg99Lys)	SHISAL2B (R99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596959	NM_001164442.2(SHISAL2B):c.332C>A (p.Ala111Asp)	SHISAL2B (A111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548419	NM_001164442.2(SHISAL2B):c.380A>T (p.Asn127Ile)	SHISAL2B (N127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535687	NM_001164442.2(SHISAL2B):c.391G>A (p.Ala131Thr)	SHISAL2B (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161782	NM_001164442.2(SHISAL2B):c.419A>G (p.Tyr140Cys)	SHISAL2B (Y140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161783	NM_001164442.2(SHISAL2B):c.473T>C (p.Ile158Thr)	SHISAL2B (I158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 1456117	NC_000005.9:g.(?_63256278)_(65374358_?)del	ADAMTS6, CENPK +12 more	Deletion	not provided	GPathogenic
Select item 979680	GRCh37/hg19 5q12.3(chr5:63827760-64499916)x3	ADAMTS6, RGS7BP +3 more	Copy number gain	not provided	GUncertain significance
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

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Items: 30