ClinVar for Gene (Select 5747) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311342	NM_001352702.2(PTK2):c.2329A>G (p.Met777Val)	PTK2 (M587V +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311341	NM_001352702.2(PTK2):c.3050C>T (p.Pro1017Leu)	PTK2 (P1017L +58 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311340	NM_001352702.2(PTK2):c.2957T>C (p.Ile986Thr)	PTK2 (I252T +58 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311338	NM_001352702.2(PTK2):c.572A>T (p.Lys191Met)	PTK2 (K204M +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3311337	NM_001352702.2(PTK2):c.2594G>A (p.Arg865His)	PTK2 (R134H +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148995	NM_001352702.2(PTK2):c.487G>C (p.Val163Leu)	PTK2 (V207L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148994	NM_001352702.2(PTK2):c.221G>C (p.Ser74Thr)	PTK2 (S74T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3148993	NM_001352702.2(PTK2):c.2896G>T (p.Asp966Tyr)	PTK2 (D214Y +58 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3148991	NM_001352702.2(PTK2):c.2387C>T (p.Ala796Val)	PTK2 (A613V +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148990	NM_001352702.2(PTK2):c.2276C>G (p.Pro759Arg)	PTK2 (P410R +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148989	NM_001352702.2(PTK2):c.104G>A (p.Arg35Gln)	PTK2 (R35Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3148988	NM_001352702.2(PTK2):c.1387A>G (p.Ile463Val)	PTK2 (I309V +32 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148987	NM_001352702.2(PTK2):c.1375C>G (p.Gln459Glu)	PTK2 (Q110E +32 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148986	NM_001352702.2(PTK2):c.1319C>T (p.Thr440Ile)	PTK2 (T232I +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2685045	GRCh37/hg19 8q24.3(chr8:141825923-142558013)x4	DENND3, GPR20 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658869	NM_001352702.2(PTK2):c.2292G>A (p.Pro764=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2 (R124* +34 more)	Single nucleotide variant (nonsense +1 more)	Failure to thrive +10 more	GUncertain significance
Select item 2569322	NM_001352702.2(PTK2):c.2488G>A (p.Glu830Lys)	PTK2 (E475K +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558387	NM_001352702.2(PTK2):c.157G>A (p.Ala53Thr)	PTK2 (A75T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557569	NM_001352702.2(PTK2):c.2918C>T (p.Thr973Met)	PTK2 (T221M +58 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554266	NM_001352702.2(PTK2):c.3151T>C (p.Tyr1051His)	PTK2 (Y1010H +59 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542896	NM_001352702.2(PTK2):c.2886C>G (p.Asp962Glu)	PTK2 (D604E +58 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540762	NM_001352702.2(PTK2):c.1649C>T (p.Ser550Leu)	PTK2 (S335L +33 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520635	NM_001352702.2(PTK2):c.2465T>C (p.Ile822Thr)	PTK2 (I307T +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512796	NM_001352702.2(PTK2):c.3128A>G (p.Asn1043Ser)	PTK2 (N889S +59 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2462977	NM_001352702.2(PTK2):c.310G>A (p.Val104Ile)	PTK2 (V104I +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2409590	NM_001352702.2(PTK2):c.40C>A (p.Pro14Thr)	PTK2 (P14T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2407023	NM_001352702.2(PTK2):c.2879A>G (p.Asn960Ser)	PTK2 (N205S +58 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402091	NM_001352702.2(PTK2):c.1007T>C (p.Ile336Thr)	PTK2 (I300T +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378852	NM_001352702.2(PTK2):c.1513G>A (p.Val505Met)	PTK2 (V290M +32 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378019	NM_001352702.2(PTK2):c.2770G>A (p.Gly924Ser)	PTK2 (G172S +43 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373432	NM_001352702.2(PTK2):c.2403C>G (p.Ile801Met)	PTK2 (I611M +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372429	NM_001352702.2(PTK2):c.2495C>G (p.Ser832Cys)	PTK2 (S317C +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344582	NM_001352702.2(PTK2):c.2950A>G (p.Ser984Gly)	PTK2 (S1000G +58 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341501	NM_001352702.2(PTK2):c.2508C>A (p.Asp836Glu)	PTK2 (D321E +34 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297209	NM_001352702.2(PTK2):c.1511G>A (p.Ser504Asn)	PTK2 (S149N +32 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267255	NM_001352702.2(PTK2):c.441C>G (p.Phe147Leu)	PTK2 (F34L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253044	NM_001352702.2(PTK2):c.3049C>G (p.Pro1017Ala)	PTK2 (P1023A +58 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229272	NM_001352702.2(PTK2):c.2734G>A (p.Ala912Thr)	PTK2 (A181T +43 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228595	NM_001352702.2(PTK2):c.458G>A (p.Ser153Asn)	PTK2 (S197N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1266242	NM_001352702.2(PTK2):c.1177+9092T>G	PTK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226102	NM_001352702.2(PTK2):c.*705T>A	PTK2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815167	GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	ADCY8, ADGRB1 +39 more	Copy number loss	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 789195	NM_001352702.2(PTK2):c.1047G>T (p.Arg349=)	PTK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 787622	NM_001352702.2(PTK2):c.2610G>A (p.Glu870=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 786128	NM_001352702.2(PTK2):c.2467G>A (p.Ala823Thr)	PTK2 (A661T +27 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 785269	NM_001352702.2(PTK2):c.1065G>A (p.Ser355=)	PTK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 785268	NM_001352702.2(PTK2):c.2109C>T (p.Asp703=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 784075	NM_001352702.2(PTK2):c.915A>C (p.Ser305=)	PTK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 769746	NM_001352702.2(PTK2):c.645C>T (p.Val215=)	PTK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 760994	NM_001352702.2(PTK2):c.1302T>A (p.Ile434=)	PTK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 754438	NM_001352702.2(PTK2):c.1161C>T (p.His387=)	PTK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 751734	NM_001352702.2(PTK2):c.1584T>A (p.Ile528=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 742240	NM_001352702.2(PTK2):c.2923C>T (p.Leu975=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739087	NM_001352702.2(PTK2):c.309C>T (p.Gly103=)	PTK2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 731408	NM_001352702.2(PTK2):c.2967C>T (p.Ala989=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 717392	NM_001352702.2(PTK2):c.2070T>C (p.Pro690=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716661	NM_001352702.2(PTK2):c.-18C>T	PTK2	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 714382	NM_001352702.2(PTK2):c.2907C>T (p.Tyr969=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709439	NM_001352702.2(PTK2):c.2322A>C (p.Pro774=)	PTK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 688777	GRCh37/hg19 8q24.3(chr8:141707464-141988518)x1	PTK2	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 684990	GRCh37/hg19 8q24.3(chr8:141617375-141747946)x3	AGO2, PTK2	Copy number gain	not provided	GUncertain significance
Select item 684989	GRCh37/hg19 8q24.3(chr8:141842772-141918884)x3	PTK2	Copy number gain	not provided	GUncertain significance
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442397	GRCh37/hg19 8q24.3(chr8:141850516-143511413)x3	DENND3, GPR20 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic

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