SPATA17[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 60081	GRCh38/hg38 1q41(chr1:216518607-219827290)x1	ESRRG, GPATCH2 +55 more	Copy number loss	See cases	GPathogenic
Select item 148989	GRCh38/hg38 1q41(chr1:216598114-218007334)x3	ESRRG, GPATCH2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 60082	GRCh38/hg38 1q41(chr1:217452423-218818361)x1	GPATCH2, LINC00210 +22 more	Copy number loss	See cases	GPathogenic
Select item 154219	GRCh38/hg38 1q41(chr1:217558925-218732002)x3	GPATCH2, LINC00210 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2398030	NM_138796.4(SPATA17):c.5C>T (p.Ala2Val)	SPATA17 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168215	NM_138796.4(SPATA17):c.62G>C (p.Arg21Thr)	SPATA17 (R21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457787	NM_138796.4(SPATA17):c.74T>C (p.Val25Ala)	SPATA17 (V25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322453	NM_138796.4(SPATA17):c.156C>G (p.Ile52Met)	SPATA17 (I52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639901	NM_138796.4(SPATA17):c.158+3A>G	SPATA17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2373718	NM_138796.4(SPATA17):c.256A>C (p.Met86Leu)	SPATA17 (M86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315185	NM_138796.4(SPATA17):c.274A>G (p.Asn92Asp)	SPATA17 (N92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168213	NM_138796.4(SPATA17):c.302G>A (p.Arg101Gln)	SPATA17 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392891	NM_138796.4(SPATA17):c.370G>A (p.Val124Ile)	SPATA17 (V124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168214	NM_138796.4(SPATA17):c.424A>G (p.Lys142Glu)	SPATA17 (K142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274179	NM_138796.4(SPATA17):c.445G>A (p.Ala149Thr)	SPATA17 (A149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291833	NM_138796.4(SPATA17):c.503T>A (p.Leu168His)	SPATA17 (L168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260377	NM_138796.4(SPATA17):c.544T>C (p.Phe182Leu)	SPATA17 (F182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304980	NM_138796.4(SPATA17):c.585G>T (p.Lys195Asn)	SPATA17 (K195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588647	NM_138796.4(SPATA17):c.598A>G (p.Thr200Ala)	SPATA17 (T200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168216	NM_138796.4(SPATA17):c.659G>T (p.Cys220Phe)	SPATA17 (C220F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624234	NM_138796.4(SPATA17):c.706A>G (p.Asn236Asp)	SPATA17 (N236D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168217	NM_138796.4(SPATA17):c.740T>C (p.Ile247Thr)	SPATA17, SPATA17-AS1 (I247T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2639902	NM_138796.4(SPATA17):c.863A>T (p.Asn288Ile)	SPATA17, SPATA17-AS1 (N288I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2392193	NM_138796.4(SPATA17):c.898A>G (p.Lys300Glu)	SPATA17 (K300E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168218	NM_138796.4(SPATA17):c.924G>T (p.Met308Ile)	SPATA17 (M308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168219	NM_138796.4(SPATA17):c.971G>A (p.Arg324Gln)	SPATA17 (R324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639903	NM_138796.4(SPATA17):c.998G>A (p.Cys333Tyr)	SPATA17 (C333Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2364711	NM_138796.4(SPATA17):c.998G>C (p.Cys333Ser)	SPATA17 (C333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 1810296	GRCh37/hg19 1q41(chr1:217923165-218542059)x1	RRP15, SPATA17 +1 more	Copy number loss	not provided	Gnot provided
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527548	GRCh37/hg19 1q41(chr1:216767549-218152575)	ESRRG, GPATCH2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199384	Single allele	TGFB2, ESRRG +4 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199383	Single allele	RRP15, TGFB2 +8 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199382	Single allele	RRP15, SPATA17 +2 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814161	GRCh37/hg19 1q41(chr1:217857591-218182225)x3	SPATA17	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 624510	GRCh37/hg19 1q41(chr1:217748650-217893701)x1	GPATCH2, SPATA17	Copy number loss	not provided	GLikely benign
Select item 565224	GRCh37/hg19 1q41(chr1:217986580-218476339)x3	RRP15, SPATA17	Copy number gain	not provided	GUncertain significance
Select item 565223	GRCh37/hg19 1q41(chr1:216761324-218152278)x3	GPATCH2, ESRRG +1 more	Copy number gain	not provided	GUncertain significance
Select item 523271	GRCh37/hg19 1q41(chr1:215829463-219225857)	ESRRG, SPATA17 +4 more	Copy number loss	Abnormal mitral valve morphology +4 more	GPathogenic
Select item 443565	GRCh37/hg19 1q41(chr1:217699328-218689648)x1	GPATCH2, RRP15 +2 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 224871	Single allele	EPRS1, SLC30A10 +6 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 224870	Single allele	TGFB2, USH2A +19 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic

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Items: 64