"GeneDx"[submitter] AND "SSR4"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 58009	GRCh38/hg38 Xq28(chrX:153667032-153817949)x0	ABCD1, BCAP31 +16 more	Copy number loss	See cases	GPathogenic
Select item 58740	GRCh38/hg38 Xq28(chrX:153769547-154394658)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 58741	GRCh38/hg38 Xq28(chrX:153777340-154397779)x3	ARHGAP4, AVPR2 +66 more	Copy number gain	See cases	GPathogenic
Select item 58742	GRCh38/hg38 Xq28(chrX:153787044-154397779)x2	ARHGAP4, AVPR2 +64 more	Copy number gain	See cases	GPathogenic
Select item 1258271	NC_000023.11:g.153794101G>A	IDH3G, SSR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510069	NM_001204526.1(SSR4):c.-26A>C	SSR4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 451572	NM_001204526.1(SSR4):c.14C>G (p.Pro5Arg)	SSR4 (P5R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 421458	NM_001204526.1(SSR4):c.20-38_20-12dup	SSR4	Duplication (intron variant)	not specified	GLikely benign
Select item 387374	NM_001204526.1(SSR4):c.20-21G>A	SSR4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1281451	NM_006280.3(SSR4):c.68-333G>C	SSR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706820	NM_006280.3(SSR4):c.68-172T>C	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255220	NM_006280.3(SSR4):c.68-114A>G	SSR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515985	NM_006280.3(SSR4):c.68-5C>T	SSR4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3370038	NM_006280.3(SSR4):c.93C>G (p.Ile31Met)	SSR4 (I31M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2507290	NM_006280.3(SSR4):c.97C>T (p.Pro33Ser)	SSR4 (P33S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 382063	NM_006280.3(SSR4):c.120C>T (p.Asp40=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 449627	NM_006280.3(SSR4):c.142G>A (p.Val48Ile)	SSR4 (V56I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1292104	NM_006280.3(SSR4):c.187-141T>C	SSR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240991	NM_006280.3(SSR4):c.187-60G>A	SSR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327362	NM_006280.3(SSR4):c.187-23C>T	SSR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389640	NM_006280.3(SSR4):c.210C>T (p.Val70=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3343638	NM_006280.3(SSR4):c.332C>T (p.Ser111Phe)	SSR4 (S111F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 512152	NM_006280.3(SSR4):c.351+19C>T	SSR4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 422805	NM_006280.3(SSR4):c.352-26GCACCTCCCTT[3]	SSR4	Microsatellite (splice acceptor variant)	not specified	GLikely benign
Select item 517953	NM_006280.3(SSR4):c.352-13A>G	SSR4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 514804	NM_006280.3(SSR4):c.366C>T (p.Asn122=)	SSR4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 392934	NM_006280.3(SSR4):c.417+15C>T	SSR4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 373487	NM_006280.3(SSR4):c.421A>G (p.Thr141Ala)	SSR4 (T149A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1702650	NM_006280.3(SSR4):c.433C>A (p.Pro145Thr)	SSR4 (P145T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365315	NM_006280.3(SSR4):c.495C>G (p.Phe165Leu)	SSR4 (F165L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663294	NM_006280.3(SSR4):c.504G>C (p.Lys168Asn)	SSR4 (K168N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303941	NM_006280.3(SSR4):c.509A>G (p.His170Arg)	SSR4 (H170R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326569	NC_000023.11:g.153798632C>T	SSR4	Single nucleotide variant	not provided	GLikely benign
Select item 253880	GRCh37/hg19 Xq28(chrX:152912867-153236360)x2	RENBP, BCAP31 +14 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253650	GRCh37/hg19 Xq28(chrX:152993910-153555804)x2	RENBP, L1CAM +18 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253510	GRCh37/hg19 Xq28(chrX:153047627-153555804)x2	TMEM187, RENBP +16 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 57