ClinVar for Gene (Select 9595) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270741	NM_004288.5(CYTIP):c.487C>G (p.Leu163Val)	CYTIP (L163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270740	NM_004288.5(CYTIP):c.728A>G (p.Glu243Gly)	CYTIP (E243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270739	NM_004288.5(CYTIP):c.695C>T (p.Pro232Leu)	CYTIP (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079829	NM_004288.5(CYTIP):c.815G>A (p.Gly272Asp)	CYTIP (G272D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079828	NM_004288.5(CYTIP):c.688C>T (p.Pro230Ser)	CYTIP (P230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079827	NM_004288.5(CYTIP):c.607C>A (p.Leu203Ile)	CYTIP (L203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079826	NM_004288.5(CYTIP):c.593A>G (p.Gln198Arg)	CYTIP (Q198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079825	NM_004288.5(CYTIP):c.36T>A (p.Asn12Lys)	CYTIP (N12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2684808	GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1	CYTIP, ERMN +3 more	Copy number loss	not provided	GPathogenic
Select item 2527243	NM_004288.5(CYTIP):c.781T>C (p.Tyr261His)	CYTIP (Y261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495883	NM_004288.5(CYTIP):c.342A>G (p.Ile114Met)	CYTIP (I114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412384	NM_004288.5(CYTIP):c.94G>A (p.Gly32Ser)	CYTIP, LOC129934965 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385468	NM_004288.5(CYTIP):c.517G>A (p.Glu173Lys)	CYTIP (E173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367788	NM_004288.5(CYTIP):c.647T>C (p.Met216Thr)	CYTIP (M216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364350	NM_004288.5(CYTIP):c.109G>A (p.Asp37Asn)	CYTIP, LOC129934965 (D37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335917	NM_004288.5(CYTIP):c.65C>T (p.Pro22Leu)	CYTIP (P22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327726	NM_004288.5(CYTIP):c.709C>T (p.Arg237Trp)	CYTIP (R237W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321286	NM_004288.5(CYTIP):c.850T>C (p.Cys284Arg)	CYTIP (C284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316853	NM_004288.5(CYTIP):c.1048C>T (p.Arg350Cys)	CYTIP (R350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293860	NM_004288.5(CYTIP):c.954G>C (p.Glu318Asp)	CYTIP (E318D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256958	NM_004288.5(CYTIP):c.86C>T (p.Thr29Ile)	CYTIP, LOC129934965 (T29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254414	NM_004288.5(CYTIP):c.314C>G (p.Ser105Trp)	CYTIP (S105W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238331	NM_004288.5(CYTIP):c.515C>T (p.Thr172Met)	CYTIP (T172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217921	NM_004288.5(CYTIP):c.826C>T (p.Arg276Trp)	CYTIP (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206193	NM_004288.5(CYTIP):c.204T>G (p.Ser68Arg)	CYTIP (S68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340408	GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1	ACVR1, ACVR1C +9 more	Copy number loss	not provided	GPathogenic
Select item 1340352	GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1	ACVR1, ACVR1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 980600	GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1	ACVR1C, GALNT5 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 816489	GRCh37/hg19 2q24.1(chr2:157873775-158514510)x3	CYTIP, ACVR1C +2 more	Copy number gain	See cases	GUncertain significance
Select item 814332	GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1	GALNT5, CYTIP +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395610	GRCh37/hg19 2q24.1(chr2:158183948-158300390)x1	CYTIP, ERMN	Copy number loss	See cases	GLikely benign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1C, LOC129934963 +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 154128	GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1	ACVR1, ACVR1C +26 more	Copy number loss	See cases	GUncertain significance
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 49