SPATA3[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 3321888	NM_139073.5(SPATA3):c.163C>T (p.Pro55Ser)	SPATA3 (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464065	NM_139073.5(SPATA3):c.188C>T (p.Thr63Ile)	SPATA3 (T63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168305	NM_139073.5(SPATA3):c.193C>T (p.Arg65Trp)	SPATA3 (R65W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212677	NM_139073.5(SPATA3):c.194G>A (p.Arg65Gln)	SPATA3 (R65Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248661	NM_139073.5(SPATA3):c.236G>C (p.Arg79Pro)	SPATA3 (R79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651993	NM_139073.5(SPATA3):c.262G>A (p.Asp88Asn)	SPATA3 (D88N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3168306	NM_139073.5(SPATA3):c.272T>G (p.Val91Gly)	SPATA3 (V91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608067	NM_139073.5(SPATA3):c.287A>G (p.Gln96Arg)	SPATA3 (Q96R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356250	NM_139073.5(SPATA3):c.316G>A (p.Ala106Thr)	SPATA3 (A106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395155	NM_139073.5(SPATA3):c.319G>A (p.Gly107Ser)	SPATA3 (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533331	NM_139073.5(SPATA3):c.349C>T (p.Pro117Ser)	SPATA3 (P117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168307	NM_139073.5(SPATA3):c.361G>A (p.Ala121Thr)	SPATA3 (A121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651994	NM_139073.5(SPATA3):c.375T>C (p.Arg125=)	SPATA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515622	NM_139073.5(SPATA3):c.380G>A (p.Gly127Glu)	SPATA3 (G127E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322290	NM_139073.5(SPATA3):c.386G>T (p.Cys129Phe)	SPATA3 (C129F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321887	NM_139073.5(SPATA3):c.395G>A (p.Arg132His)	SPATA3 (R132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168308	NM_139073.5(SPATA3):c.418C>T (p.Arg140Trp)	SPATA3 (R140W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311735	NM_139073.5(SPATA3):c.434C>T (p.Ala145Val)	SPATA3 (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598699	NM_139073.5(SPATA3):c.436C>A (p.Pro146Thr)	SPATA3 (P146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321886	NM_139073.5(SPATA3):c.503G>A (p.Arg168His)	SPATA3 (R168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567651	NM_139073.5(SPATA3):c.509C>T (p.Ala170Val)	SPATA3 (A170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245290	NM_139073.5(SPATA3):c.550G>C (p.Gly184Arg)	SPATA3 (G184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526961	GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182)	CAB39, DNER +11 more	Copy number loss	not specified	GPathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SPATA3, UGT1A3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 446435	GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1	C2orf72, CAB39 +13 more	Copy number loss	not specified	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 52