643664[Gene ID] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 2352220	NM_001102614.2(SLC35G6):c.50C>T (p.Ser17Leu)	SLC35G6, ZBTB4 (S17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607856	NM_001102614.2(SLC35G6):c.61G>A (p.Ala21Thr)	SLC35G6, ZBTB4 (A21T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389376	NM_001102614.2(SLC35G6):c.124G>C (p.Val42Leu)	SLC35G6, ZBTB4 (V42L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681553	NM_001102614.2(SLC35G6):c.176A>G (p.His59Arg)	SLC35G6, ZBTB4 (H59R)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3319660	NM_001102614.2(SLC35G6):c.248T>C (p.Ile83Thr)	SLC35G6, ZBTB4 (I83T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164470	NM_001102614.2(SLC35G6):c.268C>T (p.Arg90Cys)	SLC35G6, ZBTB4 (R90C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681554	NM_001102614.2(SLC35G6):c.269G>A (p.Arg90His)	SLC35G6, ZBTB4 (R90H)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2546803	NM_001102614.2(SLC35G6):c.276C>A (p.Asp92Glu)	SLC35G6, ZBTB4 (D92E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546812	NM_001102614.2(SLC35G6):c.301C>G (p.Arg101Gly)	SLC35G6, ZBTB4 (R101G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274418	NM_001102614.2(SLC35G6):c.332A>C (p.Asn111Thr)	SLC35G6, ZBTB4 (N111T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164471	NM_001102614.2(SLC35G6):c.334G>A (p.Val112Ile)	SLC35G6, ZBTB4 (V112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398065	NM_001102614.2(SLC35G6):c.352G>A (p.Ala118Thr)	SLC35G6, ZBTB4 (A118T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507970	NM_001102614.2(SLC35G6):c.401G>C (p.Arg134Pro)	SLC35G6, ZBTB4 (R134P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164472	NM_001102614.2(SLC35G6):c.418G>A (p.Val140Ile)	SLC35G6, ZBTB4 (V140I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256673	NM_001102614.2(SLC35G6):c.419T>G (p.Val140Gly)	SLC35G6, ZBTB4 (V140G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376575	NM_001102614.2(SLC35G6):c.475T>G (p.Trp159Gly)	SLC35G6, ZBTB4 (W159G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551449	NM_001102614.2(SLC35G6):c.496A>T (p.Ile166Phe)	SLC35G6, ZBTB4 (I166F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213955	NM_001102614.2(SLC35G6):c.517G>A (p.Val173Met)	SLC35G6, ZBTB4 (V173M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164473	NM_001102614.2(SLC35G6):c.547G>A (p.Gly183Arg)	SLC35G6, ZBTB4 (G183R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319659	NM_001102614.2(SLC35G6):c.554C>T (p.Thr185Met)	SLC35G6, ZBTB4 (T185M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454724	NM_001102614.2(SLC35G6):c.566C>A (p.Thr189Asn)	SLC35G6, ZBTB4 (T189N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592008	NM_001102614.2(SLC35G6):c.592G>T (p.Val198Leu)	SLC35G6, ZBTB4 (V198L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2511376	NM_001102614.2(SLC35G6):c.605C>T (p.Ala202Val)	SLC35G6, ZBTB4 (A202V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267495	NM_001102614.2(SLC35G6):c.643T>C (p.Phe215Leu)	SLC35G6, ZBTB4 (F215L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319662	NM_001102614.2(SLC35G6):c.712C>G (p.Leu238Val)	SLC35G6, ZBTB4 (L238V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546823	NM_001102614.2(SLC35G6):c.727C>T (p.Pro243Ser)	SLC35G6, ZBTB4 (P243S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265511	NM_001102614.2(SLC35G6):c.734T>C (p.Val245Ala)	SLC35G6, ZBTB4 (V245A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319661	NM_001102614.2(SLC35G6):c.818C>T (p.Ala273Val)	SLC35G6, ZBTB4 (A273V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533412	NM_001102614.2(SLC35G6):c.878C>T (p.Ala293Val)	SLC35G6, ZBTB4 (A293V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299800	NM_001102614.2(SLC35G6):c.950T>C (p.Leu317Pro)	SLC35G6, ZBTB4 (L317P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529320	NM_001102614.2(SLC35G6):c.974C>G (p.Ala325Gly)	SLC35G6, ZBTB4 (A325G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549540	NM_001102614.2(SLC35G6):c.1010A>G (p.Glu337Gly)	SLC35G6, ZBTB4 (E337G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815901	GRCh37/hg19 17p13.1(chr17:7381536-7535411)x1	TNFSF12-TNFSF13, ZBTB4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 562231	Single allele	ACADVL, ACAP1 +25 more	Duplication	Bilateral conductive hearing impairment +3 more	GLikely pathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442228	GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1	ACADVL, ACAP1 +26 more	Copy number loss	See cases	GLikely pathogenic
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

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Items: 64