55771[Gene ID] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 599190	NC_000017.10:g.57075470_57235248del159779	LOC130061315, LOC130061316 +9 more	Deletion	Mulibrey nanism syndrome	GLikely pathogenic
Select item 150741	GRCh38/hg38 17q22-23.1(chr17:59151705-59547602)x3	GDPD1, LINC01476 +20 more	Copy number gain	See cases	GLikely benign
Select item 147832	GRCh38/hg38 17q22-23.1(chr17:59151820-59547491)x3	GDPD1, LINC01476 +20 more	Copy number gain	See cases	GBenign
Select item 3310403	NM_018304.4(PRR11):c.9G>C (p.Lys3Asn)	PRR11 (K3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647972	NM_018304.4(PRR11):c.20G>A (p.Arg7Gln)	PRR11 (R7Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3219254	NM_018304.4(PRR11):c.46G>A (p.Glu16Lys)	PRR11 (E16K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310405	NM_018304.4(PRR11):c.164G>T (p.Arg55Ile)	PRR11 (R55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310404	NM_018304.4(PRR11):c.217A>G (p.Ile73Val)	PRR11 (I73V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387732	NM_018304.4(PRR11):c.271A>G (p.Ile91Val)	PRR11 (I91V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219253	NM_018304.4(PRR11):c.343G>A (p.Val115Ile)	PRR11 (V115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538535	NM_018304.4(PRR11):c.354G>C (p.Gln118His)	PRR11 (Q118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268485	NM_018304.4(PRR11):c.443C>T (p.Thr148Ile)	PRR11 (T148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251289	NM_018304.4(PRR11):c.478G>T (p.Ala160Ser)	PRR11 (A160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219255	NM_018304.4(PRR11):c.520C>T (p.Pro174Ser)	PRR11 (P174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545757	NM_018304.4(PRR11):c.592C>G (p.Pro198Ala)	PRR11 (P198A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219256	NM_018304.4(PRR11):c.646G>C (p.Ala216Pro)	PRR11 (A216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623809	NM_018304.4(PRR11):c.766C>T (p.Arg256Trp)	PRR11 (R256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219257	NM_018304.4(PRR11):c.845C>G (p.Thr282Arg)	PRR11 (T282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219258	NM_018304.4(PRR11):c.865G>A (p.Gly289Arg)	PRR11 (G289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219259	NM_018304.4(PRR11):c.887G>A (p.Arg296Gln)	PRR11 (R296Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604951	NM_018304.4(PRR11):c.979C>G (p.Pro327Ala)	PRR11 (P327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593394	NM_018304.4(PRR11):c.1036A>G (p.Thr346Ala)	PRR11 (T346A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219252	NM_018304.4(PRR11):c.1079A>C (p.Asn360Thr)	PRR11 (N360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426129	NC_000017.10:g.(?_56798087)_(57771213_?)dup	CLTC, DHX40 +8 more	Duplication	not provided	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340785	GRCh37/hg19 17q22-23.1(chr17:57177520-57616383)x3	GDPD1, PRR11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 929382	GRCh37/hg19 17q22(chr17:56780562-57251609)x1	PPM1E, PRR11 +3 more	Copy number loss	See cases	GPathogenic
Select item 687159	GRCh37/hg19 17q22(chr17:57177648-57576615)x3	GDPD1, PRR11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685605	GRCh37/hg19 17q22(chr17:57059828-57375023)x3	GDPD1, PPM1E +4 more	Copy number gain	not provided	GUncertain significance
Select item 444851	GRCh37/hg19 17q22(chr17:57045488-57404278)x3	GDPD1, SMG8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 442518	GRCh37/hg19 17q22-23.1(chr17:57159678-57665342)x3	DHX40, GDPD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441659	GRCh37/hg19 17q22-23.1(chr17:57070141-57752711)x3	CLTC, DHX40 +6 more	Copy number gain	See cases	GUncertain significance
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 42