30029[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 60174	GRCh38/hg38 17q25.3(chr17:78338863-78426117)x3	DNAH17, LOC105371912 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2526486	NM_024419.5(PGS1):c.4G>A (p.Ala2Thr)	PGS1 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211919	NM_024419.5(PGS1):c.14C>A (p.Ala5Glu)	PGS1 (A5E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306048	NM_024419.5(PGS1):c.26C>T (p.Ala9Val)	PGS1 (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400124	NM_024419.5(PGS1):c.37T>C (p.Phe13Leu)	PGS1 (F13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211915	NM_024419.5(PGS1):c.109C>T (p.Arg37Cys)	PGS1 (R37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211916	NM_024419.5(PGS1):c.140G>T (p.Arg47Met)	PGS1 (R47M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557451	NM_024419.5(PGS1):c.371C>T (p.Ala124Val)	PGS1 (A124V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211920	NM_024419.5(PGS1):c.418T>C (p.Cys140Arg)	PGS1 (C140R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601102	NM_024419.5(PGS1):c.497C>A (p.Thr166Lys)	PGS1 (T166K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403534	NM_024419.5(PGS1):c.512G>C (p.Gly171Ala)	PGS1 (G171A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211921	NM_024419.5(PGS1):c.551G>A (p.Arg184Gln)	PGS1 (R184Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2541797	NM_024419.5(PGS1):c.590C>A (p.Thr197Lys)	PGS1 (T197K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554263	NM_024419.5(PGS1):c.593C>T (p.Pro198Leu)	PGS1 (P198L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211922	NM_024419.5(PGS1):c.614G>A (p.Arg205Gln)	PGS1 (R205Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235321	NM_024419.5(PGS1):c.743G>A (p.Arg248His)	PGS1 (R248H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367946	NM_024419.5(PGS1):c.788C>T (p.Thr263Met)	PGS1 (T263M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559140	NM_024419.5(PGS1):c.803C>T (p.Ala268Val)	PGS1 (A268V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211923	NM_024419.5(PGS1):c.886C>T (p.Arg296Trp)	PGS1 (R296W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306049	NM_024419.5(PGS1):c.902A>G (p.Lys301Arg)	PGS1 (K301R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214367	NM_024419.5(PGS1):c.911A>G (p.Asn304Ser)	PGS1 (N304S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306050	NM_024419.5(PGS1):c.991C>A (p.Leu331Ile)	PGS1 (L331I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211912	NM_024419.5(PGS1):c.1004A>G (p.Glu335Gly)	PGS1 (E335G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211913	NM_024419.5(PGS1):c.1010C>G (p.Ala337Gly)	PGS1 (A337G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211914	NM_024419.5(PGS1):c.1037C>A (p.Ala346Asp)	PGS1 (A346D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598803	NM_024419.5(PGS1):c.1106C>T (p.Thr369Ile)	PGS1 (T369I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338406	NM_024419.5(PGS1):c.1186A>G (p.Met396Val)	PGS1 (M396V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217683	NM_024419.5(PGS1):c.1220A>G (p.Gln407Arg)	PGS1 (Q407R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250958	NM_024419.5(PGS1):c.1279G>T (p.Ala427Ser)	PGS1 (A427S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306051	NM_024419.5(PGS1):c.1298T>G (p.Val433Gly)	PGS1 (V433G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306047	NM_024419.5(PGS1):c.1351C>T (p.Arg451Trp)	PGS1 (R451W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546247	NM_024419.5(PGS1):c.1372T>C (p.Trp458Arg)	PGS1 (W458R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319457	NM_024419.5(PGS1):c.1388C>T (p.Thr463Met)	PGS1 (T463M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648340	NM_024419.5(PGS1):c.1395C>T (p.His465=)	PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3211917	NM_024419.5(PGS1):c.1432C>G (p.Leu478Val)	PGS1 (L478V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211918	NM_024419.5(PGS1):c.1485C>G (p.His495Gln)	PGS1 (H495Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623437	NM_024419.5(PGS1):c.1513G>A (p.Val505Met)	PGS1 (V505M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249082	NM_024419.5(PGS1):c.1595C>T (p.Ala532Val)	PGS1 (A532V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408789	NM_024419.5(PGS1):c.1610C>T (p.Pro537Leu)	PGS1 (P537L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1246795	NM_173628.4(DNAH17):c.*105C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3033897	NM_024419.5(PGS1):c.*11-158G>A	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +1 more)	PGS1-related disorder	GLikely benign
Select item 2648341	NM_173628.4(DNAH17):c.13365C>T (p.Ala4455=)	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2553826	NM_173628.4(DNAH17):c.13346C>G (p.Ala4449Gly)	DNAH17, PGS1 (A4449G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350639	NM_173628.4(DNAH17):c.13346C>A (p.Ala4449Glu)	DNAH17, PGS1 (A4449E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210343	NM_173628.4(DNAH17):c.13346C>T (p.Ala4449Val)	DNAH17, PGS1 (A4449V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374844	NM_173628.4(DNAH17):c.13330A>G (p.Thr4444Ala)	DNAH17, PGS1 (T4444A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355990	NM_173628.4(DNAH17):c.13312T>C (p.Trp4438Arg)	DNAH17, PGS1 (W4438R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648342	NM_173628.4(DNAH17):c.13296C>T (p.Arg4432=)	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1241586	NM_173628.4(DNAH17):c.13291A>G (p.Ile4431Val)	DNAH17, PGS1 (I4431V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3272700	NM_173628.4(DNAH17):c.13289G>A (p.Arg4430His)	DNAH17, PGS1 (R4430H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648343	NM_024419.5(PGS1):c.*11-44C>A	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2246516	NM_173628.4(DNAH17):c.13243C>T (p.Arg4415Cys)	DNAH17, PGS1 (R4415C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083706	NM_173628.4(DNAH17):c.13219T>A (p.Phe4407Ile)	DNAH17, PGS1 (F4407I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3083705	NM_173628.4(DNAH17):c.13216A>G (p.Ile4406Val)	DNAH17, PGS1 (I4406V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2270779	NM_173628.4(DNAH17):c.13184G>A (p.Arg4395Gln)	DNAH17, PGS1 (R4395Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3049256	NM_173628.4(DNAH17):c.13183C>T (p.Arg4395Trp)	DNAH17, PGS1 (R4395W)	Single nucleotide variant (missense variant +2 more)	DNAH17-related disorder	GLikely benign
Select item 1232395	NM_173628.4(DNAH17):c.13142-139C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1269355	NM_173628.4(DNAH17):c.13142-159C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1246188	NM_173628.4(DNAH17):c.13142-203A>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	ANAPC11, ARHGDIA +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 564474	GRCh37/hg19 17q25.3(chr17:76395581-76703281)x3	CYTH1, DNAH17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
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 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 75