ClinVar for Gene (Select 7013) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325422	NM_017489.3(TERF1):c.1237A>T (p.Asn413Tyr)	TERF1 (N339Y +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3325421	NM_017489.3(TERF1):c.1238A>G (p.Asn413Ser)	TERF1 (N289S +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176152	NM_017489.3(TERF1):c.76G>A (p.Glu26Lys)	TERF1 (E26K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176151	NM_017489.3(TERF1):c.55A>G (p.Arg19Gly)	TERF1 (R19G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176150	NM_017489.3(TERF1):c.485A>G (p.Glu162Gly)	TERF1 (E162G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176149	NM_017489.3(TERF1):c.302C>T (p.Thr101Ile)	TERF1 (T101I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176148	NM_017489.3(TERF1):c.1106C>T (p.Pro369Leu)	TERF1 (P265L +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176147	NM_017489.3(TERF1):c.1096A>G (p.Lys366Glu)	TERF1 (K292E +9 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
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 3043905	NM_017489.3(TERF1):c.744A>G (p.Leu248=)	TERF1	Single nucleotide variant (synonymous variant +1 more)	TERF1-related disorder	GLikely benign
Select item 3034140	NM_017489.3(TERF1):c.42C>T (p.Gly14=)	TERF1	Single nucleotide variant (synonymous variant +2 more)	TERF1-related disorder	GLikely benign
Select item 2658652	NM_017489.3(TERF1):c.1182C>T (p.Gly394=)	TERF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2621025	NM_017489.3(TERF1):c.1127G>A (p.Arg376Gln)	TERF1 (R252Q +9 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2618409	NM_017489.3(TERF1):c.980A>C (p.Gln327Pro)	TERF1 (Q223P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615926	NM_017489.3(TERF1):c.701A>G (p.Asn234Ser)	TERF1 (N202S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514988	NM_017489.3(TERF1):c.373A>G (p.Ile125Val)	TERF1 (I125V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405724	NM_017489.3(TERF1):c.1312G>A (p.Glu438Lys)	TERF1 (E314K +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339643	NM_017489.3(TERF1):c.1028G>A (p.Gly343Glu)	TERF1 (G239E +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308318	NM_017489.3(TERF1):c.329A>C (p.His110Pro)	TERF1 (H6P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282005	NM_017489.3(TERF1):c.1219C>G (p.Leu407Val)	TERF1 (L283V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244076	NM_017489.3(TERF1):c.349G>C (p.Ala117Pro)	TERF1 (A13P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226390	NM_017489.3(TERF1):c.62C>T (p.Ala21Val)	TERF1 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808786	GRCh37/hg19 8q21.11(chr8:73901862-73960948)x1	TERF1	Copy number loss	not provided	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 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	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 1294462	NM_017489.3(TERF1):c.775-214T>G	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294460	NM_017489.3(TERF1):c.775-40A>G	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294456	NM_017489.3(TERF1):c.1040-77T>G	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294455	NM_017489.3(TERF1):c.415+11T>G	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294451	NM_017489.3(TERF1):c.1040-124G>A	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276310	NM_017489.3(TERF1):c.775-298T>A	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272980	NM_017489.3(TERF1):c.285C>T (p.Ser95=)	TERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1269411	NM_017489.3(TERF1):c.1144-163C>T	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268267	NM_017489.3(TERF1):c.947+82C>T	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266080	NM_017489.3(TERF1):c.947+192G>C	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260965	NM_017489.3(TERF1):c.1144-46T>C	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260888	NM_017489.3(TERF1):c.319+98_319+99insTCGGGAGAGAGG	TERF1	Insertion (intron variant)	not provided	GBenign
Select item 1250469	NM_017489.3(TERF1):c.415+218C>T	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249955	NM_017489.3(TERF1):c.*91T>C	TERF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1241756	NM_017489.3(TERF1):c.887+69G>A	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241338	NM_017489.3(TERF1):c.537+199T>C	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233718	NM_017489.3(TERF1):c.888-214A>C	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174354	NM_017489.3(TERF1):c.887+71C>T	TERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784130	NM_017489.3(TERF1):c.1258T>C (p.Leu420=)	TERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784129	NM_017489.3(TERF1):c.1188G>A (p.Arg396=)	TERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
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 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic
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 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 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67