4045[Gene ID] - ClinVar

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Items: 46

	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 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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 144858	GRCh38/hg38 3q13.31(chr3:114298318-116366433)x1	GAP43, LOC108004532 +39 more	Copy number loss	See cases	GUncertain significance
Select item 155607	GRCh38/hg38 3q13.31-13.32(chr3:114734452-118164045)x1	GAP43, LINC00901 +37 more	Copy number loss	See cases	GUncertain significance
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 2308214	NM_002338.5(LSAMP):c.932T>C (p.Val311Ala)	LSAMP (V334A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121271	NM_002338.5(LSAMP):c.779G>A (p.Ser260Asn)	LSAMP (S260N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251092	NM_002338.5(LSAMP):c.620A>T (p.Asp207Val)	LSAMP (D207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275561	NM_002338.5(LSAMP):c.512C>T (p.Thr171Ile)	LSAMP (T171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269356	NM_002338.5(LSAMP):c.467A>G (p.Asn156Ser)	LSAMP (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292150	NM_002338.5(LSAMP):c.460A>G (p.Met154Val)	LSAMP (M154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292152	NM_002338.5(LSAMP):c.449C>T (p.Thr150Ile)	LSAMP (T150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251582	NM_002338.5(LSAMP):c.411C>G (p.Ile137Met)	LSAMP (I137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554763	NM_002338.5(LSAMP):c.295C>G (p.Gln99Glu)	LSAMP (Q99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217408	NM_002338.5(LSAMP):c.284G>A (p.Ser95Asn)	LSAMP (S95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459671	NM_002338.5(LSAMP):c.176A>G (p.Asn59Ser)	LSAMP (N59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149138	GRCh38/hg38 3q13.31-13.32(chr3:116366433-119033600)x3	IGSF11, IGSF11-AS1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3292151	NM_002338.5(LSAMP):c.109G>A (p.Gly37Ser)	LSAMP (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121270	NM_002338.5(LSAMP):c.22G>A (p.Asp8Asn)	LSAMP (D8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062719	GRCh37/hg19 3q13.31-13.32(chr3:116078376-118754726)x1	IGSF11, IGSF11-AS1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1809345	GRCh37/hg19 3q13.31(chr3:115364084-115667101)x3	GAP43, LSAMP	Copy number gain	not provided	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1808251	GRCh37/hg19 3q13.31(chr3:115719293-115843733)x1	LSAMP	Copy number loss	not provided	GUncertain significance
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 929399	GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1	ATP6V1A, CCDC191 +13 more	Copy number loss	See cases	GPathogenic
Select item 814473	GRCh37/hg19 3q13.31(chr3:115518341-115825870)x1	LSAMP	Copy number loss	not provided	GUncertain significance
Select item 814472	GRCh37/hg19 3q13.31(chr3:115469720-115807541)x3	LSAMP	Copy number gain	not provided	GUncertain significance
Select item 685232	GRCh37/hg19 3q13.31(chr3:113976794-115539266)x3	GAP43, LSAMP +2 more	Copy number gain	not provided	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 562808	GRCh37/hg19 3q13.31(chr3:113976880-115536487)x3	ZBTB20, LSAMP +2 more	Copy number gain	not provided	GUncertain significance
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 443681	GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1	ATP6V1A, BOC +18 more	Copy number loss	See cases	GPathogenic
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 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 253338	GRCh37/hg19 3q13.31(chr3:114260384-116691114)x1	LSAMP, GAP43 +1 more	Copy number loss	See cases	GLikely pathogenic

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Items: 46