EPHB1[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 3275955	NM_004441.5(EPHB1):c.8T>C (p.Leu3Pro)	EPHB1 (L3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274438	NM_004441.5(EPHB1):c.53T>C (p.Met18Thr)	EPHB1 (M18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146737	GRCh38/hg38 3q22.2-22.3(chr3:134824436-136787321)x3	EPHB1, LOC112903838 +20 more	Copy number gain	See cases	GUncertain significance
Select item 2654167	NM_004441.5(EPHB1):c.81G>A (p.Thr27=)	EPHB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2550903	NM_004441.5(EPHB1):c.116C>T (p.Ala39Val)	EPHB1 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089654	NM_004441.5(EPHB1):c.269G>A (p.Arg90His)	EPHB1 (R90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275951	NM_004441.5(EPHB1):c.395C>G (p.Ala132Gly)	EPHB1 (A132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610307	NM_004441.5(EPHB1):c.479C>G (p.Thr160Arg)	EPHB1 (T160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260899	NM_004441.5(EPHB1):c.523C>T (p.Leu175Phe)	EPHB1 (L175F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621568	NM_004441.5(EPHB1):c.544G>A (p.Ala182Thr)	EPHB1 (A182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252041	NM_004441.5(EPHB1):c.590C>A (p.Pro197His)	EPHB1 (P197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089657	NM_004441.5(EPHB1):c.642G>C (p.Glu214Asp)	EPHB1 (E214D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251120	NM_004441.5(EPHB1):c.665G>A (p.Arg222Gln)	EPHB1 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275954	NM_004441.5(EPHB1):c.676A>T (p.Ile226Phe)	EPHB1 (I226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363977	NM_004441.5(EPHB1):c.676A>G (p.Ile226Val)	EPHB1 (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089658	NM_004441.5(EPHB1):c.875G>A (p.Arg292His)	EPHB1 (R292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411720	NM_004441.5(EPHB1):c.1091G>A (p.Arg364Gln)	EPHB1 (R364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089651	NM_004441.5(EPHB1):c.1185C>A (p.Ser395Arg)	EPHB1 (S395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371285	NM_004441.5(EPHB1):c.1208C>T (p.Thr403Ile)	EPHB1 (T403I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089652	NM_004441.5(EPHB1):c.1252T>C (p.Phe418Leu)	EPHB1 (F418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275958	NM_004441.5(EPHB1):c.1258C>G (p.Pro420Ala)	EPHB1 (P420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519886	NM_004441.5(EPHB1):c.1267G>A (p.Val423Ile)	EPHB1 (V423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275368	NM_004441.5(EPHB1):c.1312C>T (p.Pro438Ser)	EPHB1 (P438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387312	NM_004441.5(EPHB1):c.1454G>A (p.Arg485Lys)	EPHB1 (R485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613950	NM_004441.5(EPHB1):c.1565G>A (p.Cys522Tyr)	EPHB1 (C522Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405185	NM_004441.5(EPHB1):c.1656C>G (p.Phe552Leu)	EPHB1 (F552L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717504	NM_004441.5(EPHB1):c.1656C>T (p.Phe552=)	EPHB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 724880	NM_004441.5(EPHB1):c.1683C>T (p.Ile561=)	EPHB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2600128	NM_004441.5(EPHB1):c.1760G>C (p.Gly587Ala)	EPHB1 (G587A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275956	NM_004441.5(EPHB1):c.1985G>A (p.Arg662His)	EPHB1 (R662H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388878	NM_004441.5(EPHB1):c.1987C>T (p.Arg663Trp)	EPHB1 (R663W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390937	NM_004441.5(EPHB1):c.2014A>G (p.Met672Val)	EPHB1 (M672V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221635	NM_004441.5(EPHB1):c.2038A>T (p.Ile680Phe)	EPHB1 (I680F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338175	NM_004441.5(EPHB1):c.2122T>C (p.Phe708Leu)	EPHB1 (F708L)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2543089	NM_004441.5(EPHB1):c.2149A>G (p.Thr717Ala)	EPHB1 (T717A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472566	NM_004441.5(EPHB1):c.2180G>T (p.Gly727Val)	EPHB1 (G727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275957	NM_004441.5(EPHB1):c.2309A>G (p.Gln770Arg)	EPHB1 (Q770R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478040	NM_004441.5(EPHB1):c.2330C>T (p.Thr777Ile)	EPHB1 (T777I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 2275127	NM_004441.5(EPHB1):c.2498T>C (p.Val833Ala)	EPHB1 (V833A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 69746	NM_004441.5(EPHB1):c.2511C>T (p.Ile837=)	EPHB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089653	NM_004441.5(EPHB1):c.2598C>A (p.Asn866Lys)	EPHB1 (N866K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482696	NM_004441.5(EPHB1):c.2615C>T (p.Ala872Val)	EPHB1 (A872V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256969	NM_004441.5(EPHB1):c.2618A>G (p.Glu873Gly)	EPHB1 (E873G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608011	NM_004441.5(EPHB1):c.2621T>C (p.Ile874Thr)	EPHB1 (I874T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485920	NM_004441.5(EPHB1):c.2643G>A (p.Met881Ile)	EPHB1 (M881I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509156	NM_004441.5(EPHB1):c.2654C>T (p.Pro885Leu)	EPHB1 (P885L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275952	NM_004441.5(EPHB1):c.2671G>A (p.Val891Met)	EPHB1 (V891M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531707	NM_004441.5(EPHB1):c.2686G>A (p.Ala896Thr)	EPHB1 (A896T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344520	NM_004441.5(EPHB1):c.2702C>T (p.Pro901Leu)	EPHB1 (P901L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089655	NM_004441.5(EPHB1):c.2782T>C (p.Tyr928His)	EPHB1 (Y928H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089656	NM_004441.5(EPHB1):c.2930G>A (p.Ser977Asn)	EPHB1 (S977N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275953	NM_004441.5(EPHB1):c.2939C>A (p.Pro980Gln)	EPHB1 (P980Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782434	NM_004441.5(EPHB1):c.2943G>A (p.Thr981=)	EPHB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2489497	NM_004441.5(EPHB1):c.2945C>T (p.Ala982Val)	EPHB1 (A982V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808878	GRCh37/hg19 3q22.2(chr3:134777349-135294115)x3	EPHB1	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1708468	GRCh37/hg19 3q22.2(chr3:133998370-134678040)x1	ANAPC13, EPHB1 +3 more	Copy number loss	See cases	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 226152	GRCh37/hg19 3q22.2(chr3:134978716-135053549)	EPHB1	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 73